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Human haploinsufficiency — one for sorrow, two for joy
article published in 1994
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instance of
scholarly article
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title
Human haploinsufficiency — one for sorrow, two for joy
(English)
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main subject
haploinsufficiency
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author
Peter J Scambler
object named as
Peter Scambler
series ordinal
2
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author name string
Elizabeth Fisher
series ordinal
1
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language of work or name
English
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publication date
May 1994
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published in
Nature Genetics
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volume
7
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issue
1
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page(s)
5-7
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exact match
https://scigraph.springernature.com/pub.10.1038/ng0594-5
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cites work
Positional cloning: let's not call it reverse anymore
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Positional cloning and characterization of a paired box- and homeobox-containing gene from the aniridia region
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GLI3 zinc-finger gene interrupted by translocations in Greig syndrome families
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A zinc-finger gene ZNF141 mapping at 4p16.3/D4S90 is a candidate gene for the Wolf-Hirschhorn (4p-) syndrome
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Isolation of a putative transcriptional regulator from the region of 22q11 deleted in DiGeorge syndrome, Shprintzen syndrome and familial congenital heart disease
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DiGeorge syndrome: part of CATCH 22.
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Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease
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Mutations of the RET proto-oncogene in Hirschsprung's disease
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Turner syndrome: the case of the missing sex chromosome
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Falling off the knife edge
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W mutant mice with mild or severe developmental defects contain distinct point mutations in the kinase domain of the c-kit receptor
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The human protooncogene ret: a communicative cadherin?
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A Drosophila Minute gene encodes a ribosomal protein.
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Dimerization and the control of transcription by Krüppel.
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Hereditary disorders of the red cell membrane skeleton
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Possible influences on the expression of X chromosome-linked dystrophin abnormalities by heterozygosity for autosomal recessive Fukuyama congenital muscular dystrophy
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A frame shift mutation in the PMP22 gene in hereditary neuropathy with liability to pressure palsies
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Identifiers
DOI
10.1038/NG0594-5
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PubMed publication ID
8075640
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