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Genetics of deafness
scientific article published on August 1996
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instance of
scholarly article
1 reference
stated in
Europe PubMed Central
PubMed ID
8794099
retrieved
26 September 2017
review article
1 reference
stated in
Europe PubMed Central
title
Genetics of deafness
(English)
1 reference
stated in
Europe PubMed Central
PubMed ID
8794099
retrieved
26 September 2017
main subject
deafness
1 reference
based on heuristic
inferred from title
author name string
Steel KP
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed ID
8794099
retrieved
26 September 2017
Brown SD
series ordinal
2
1 reference
stated in
Europe PubMed Central
PubMed ID
8794099
retrieved
26 September 2017
publication date
1 August 1996
1 reference
stated in
Europe PubMed Central
PubMed ID
8794099
retrieved
26 September 2017
published in
Current Opinion in Neurobiology
1 reference
stated in
Europe PubMed Central
PubMed ID
8794099
retrieved
26 September 2017
volume
6
1 reference
stated in
Europe PubMed Central
PubMed ID
8794099
retrieved
26 September 2017
issue
4
1 reference
stated in
Europe PubMed Central
PubMed ID
8794099
retrieved
26 September 2017
page(s)
520-525
1 reference
stated in
Europe PubMed Central
PubMed ID
8794099
retrieved
26 September 2017
cites work
Genes and deafness
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Crossref
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https://api.crossref.org/works/10.1016%2FS0959-4388%2896%2980059-6
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7 January 2021
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Inherited hearing defects in mice
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reference URL
https://api.crossref.org/works/10.1016%2FS0959-4388%2896%2980059-6
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A type VII myosin encoded by the mouse deafness gene shaker-1
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Defective myosin VIIA gene responsible for Usher syndrome type 1B
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reference URL
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The mouse Snell's waltzer deafness gene encodes an unconventional myosin required for structural integrity of inner ear hair cells
1 reference
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reference URL
https://api.crossref.org/works/10.1016%2FS0959-4388%2896%2980059-6
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7 January 2021
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Expression in cochlea and retina of myosin VIIa, the gene product defective in Usher syndrome type 1B
1 reference
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reference URL
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Snell's waltzer, a new mutation affecting behaviour and the inner ear in the mouse
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Skeletal overgrowth and deafness in mice lacking fibroblast growth factor receptor 3.
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7 January 2021
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Unique expression pattern of the FGF receptor 3 gene during mouse organogenesis
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7 January 2021
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Chondrodysplasia and neurological abnormalities in ATF-2-deficient mice
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7 January 2021
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Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene
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7 January 2021
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An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome
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Mutations at the mouse microphthalmia locus are associated with defects in a gene encoding a novel basic-helix-loop-helix-zipper protein
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https://api.crossref.org/works/10.1016%2FS0959-4388%2896%2980059-6
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Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene.
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7 January 2021
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The mutational spectrum in Waardenburg syndrome.
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A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease
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Mutation of the endothelin-receptor B gene in Waardenburg-Hirschsprung disease
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7 January 2021
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Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome)
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https://api.crossref.org/works/10.1016%2FS0959-4388%2896%2980059-6
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7 January 2021
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A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome)
1 reference
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reference URL
https://api.crossref.org/works/10.1016%2FS0959-4388%2896%2980059-6
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7 January 2021
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Interaction of endothelin-3 with endothelin-B receptor is essential for development of epidermal melanocytes and enteric neurons
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7 January 2021
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Targeted and natural (piebald-lethal) mutations of endothelin-B receptor gene produce megacolon associated with spotted coat color in mice
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Quantitative trait loci that modify the severity of spotting in piebald mice.
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7 January 2021
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Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome. The Treacher Collins Syndrome Collaborative Group
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7 January 2021
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Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4
1 reference
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https://api.crossref.org/works/10.1016%2FS0959-4388%2896%2980059-6
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7 January 2021
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The mouse segmentation gene kr encodes a novel basic domain-leucine zipper transcription factor
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7 January 2021
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Developmental defects of the ear, cranial nerves and hindbrain resulting from targeted disruption of the mouse homeobox gene Hox-1.6
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7 January 2021
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Disruption of the Hox-1.6 homeobox gene results in defects in a region corresponding to its rostral domain of expression
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https://api.crossref.org/works/10.1016%2FS0959-4388%2896%2980059-6
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7 January 2021
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The gene for an inherited form of deafness maps to chromosome 5q31
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Crossref
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https://api.crossref.org/works/10.1016%2FS0959-4388%2896%2980059-6
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7 January 2021
based on heuristic
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Linkage of autosomal dominant hearing loss to the short arm of chromosome 1 in two families
1 reference
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Crossref
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https://api.crossref.org/works/10.1016%2FS0959-4388%2896%2980059-6
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7 January 2021
based on heuristic
inferred from DOI database lookup
A gene responsible for a dominant form of neurosensory non-syndromic deafness maps to the NSRD1 recessive deafness gene interval
1 reference
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https://api.crossref.org/works/10.1016%2FS0959-4388%2896%2980059-6
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7 January 2021
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Linkage of a gene for dominant non-syndromic deafness to chromosome 19.
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-4388%2896%2980059-6
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7 January 2021
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Localization of a gene for non-syndromic hearing loss (DFNA5) to chromosome 7p15.
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-4388%2896%2980059-6
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7 January 2021
based on heuristic
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A gene for autosomal dominant nonsyndromic hereditary hearing impairment maps to 4p16.3
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https://api.crossref.org/works/10.1016%2FS0959-4388%2896%2980059-6
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7 January 2021
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A gene for non-syndromic autosomal dominant progressive postlingual sensorineural hearing loss maps to chromosome 14q12-13
1 reference
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https://api.crossref.org/works/10.1016%2FS0959-4388%2896%2980059-6
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7 January 2021
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A gene for autosomal dominant late-onset progressive non-syndromic hearing loss, DFNA10, maps to chromosome 6.
1 reference
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Crossref
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https://api.crossref.org/works/10.1016%2FS0959-4388%2896%2980059-6
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A gene for a dominant form of non-syndromic sensorineural deafness (DFNA11) maps within the region containing the DFNB2 recessive deafness gene
1 reference
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reference URL
https://api.crossref.org/works/10.1016%2FS0959-4388%2896%2980059-6
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7 January 2021
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A non-syndrome form of neurosensory, recessive deafness maps to the pericentromeric region of chromosome 13q.
1 reference
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Crossref
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https://api.crossref.org/works/10.1016%2FS0959-4388%2896%2980059-6
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7 January 2021
based on heuristic
inferred from DOI database lookup
A human gene responsible for neurosensory, non-syndromic recessive deafness is a candidate homologue of the mouse sh-1 gene
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-4388%2896%2980059-6
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7 January 2021
based on heuristic
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A gene for congenital, recessive deafness DFNB3 maps to the pericentromeric region of chromosome 17.
1 reference
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Crossref
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https://api.crossref.org/works/10.1016%2FS0959-4388%2896%2980059-6
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7 January 2021
based on heuristic
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Linkage of congenital, recessive deafness (DFNB4) to chromosome 7q31 and evidence for genetic heterogeneity in the Middle Eastern Druze population
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-4388%2896%2980059-6
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7 January 2021
based on heuristic
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Consanguineous nuclear families used to identify a new locus for recessive non-syndromic hearing loss on 14q.
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-4388%2896%2980059-6
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7 January 2021
based on heuristic
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An autosomal recessive nonsyndromic form of sensorineural hearing loss maps to 3p-DFNB6
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-4388%2896%2980059-6
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7 January 2021
based on heuristic
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A human recessive neurosensory nonsyndromic hearing impairment locus is potential homologue of murine deafness (dn) locus
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-4388%2896%2980059-6
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7 January 2021
based on heuristic
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Autosomal recessive non-syndromic deafness locus (DFNB8) maps on chromosome 21q22 in a large consanguineous kindred from Pakistan.
1 reference
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https://api.crossref.org/works/10.1016%2FS0959-4388%2896%2980059-6
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7 January 2021
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A Gene Responsible for a Sensorineural Nonsyndromic Recessive Deafness Maps to Chromosome 2p22-23
1 reference
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https://api.crossref.org/works/10.1016%2FS0959-4388%2896%2980059-6
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7 January 2021
based on heuristic
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Mapping of DFNB12, a gene for a non-syndromal autosomal recessive deafness, to chromosome 10q21-22.
1 reference
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Crossref
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https://api.crossref.org/works/10.1016%2FS0959-4388%2896%2980059-6
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7 January 2021
based on heuristic
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A new X linked recessive deafness syndrome with blindness, dystonia, fractures, and mental deficiency is linked to Xq22.
1 reference
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https://api.crossref.org/works/10.1016%2FS0959-4388%2896%2980059-6
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7 January 2021
based on heuristic
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Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness
1 reference
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https://api.crossref.org/works/10.1016%2FS0959-4388%2896%2980059-6
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7 January 2021
based on heuristic
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A novel mitochondrial point mutation in a maternal pedigree with sensorineural deafness.
1 reference
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https://api.crossref.org/works/10.1016%2FS0959-4388%2896%2980059-6
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7 January 2021
based on heuristic
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Maternally inherited hearing loss, ataxia and myoclonus associated with a novel point mutation in mitochondrial tRNASer(UCN) gene.
1 reference
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https://api.crossref.org/works/10.1016%2FS0959-4388%2896%2980059-6
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7 January 2021
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Pendred syndrome (goitre and sensorineural hearing loss) maps to chromosome 7 in the region containing the nonsyndromic deafness gene DFNB4
1 reference
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https://api.crossref.org/works/10.1016%2FS0959-4388%2896%2980059-6
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7 January 2021
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Pendred syndrome maps to chromosome 7q21-34 and is caused by an intrinsic defect in thyroid iodine organification
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-4388%2896%2980059-6
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7 January 2021
based on heuristic
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Molecular cloning and characterization of an inner ear-specific structural protein.
1 reference
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https://api.crossref.org/works/10.1016%2FS0959-4388%2896%2980059-6
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7 January 2021
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Alpha 9: an acetylcholine receptor with novel pharmacological properties expressed in rat cochlear hair cells
1 reference
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https://api.crossref.org/works/10.1016%2FS0959-4388%2896%2980059-6
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7 January 2021
based on heuristic
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Molecular cloning of a myosin I beta isozyme that may mediate adaptation by hair cells of the bullfrog's internal ear
1 reference
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reference URL
https://api.crossref.org/works/10.1016%2FS0959-4388%2896%2980059-6
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7 January 2021
based on heuristic
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Identifiers
DOI
10.1016/S0959-4388(96)80059-6
1 reference
stated in
Europe PubMed Central
PubMed ID
8794099
retrieved
26 September 2017
PubMed ID
8794099
1 reference
stated in
Europe PubMed Central
PubMed ID
8794099
retrieved
26 September 2017
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