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Phenotypic diversity, allelic series and modifier genes

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Phenotypic diversity, allelic series and modifier genes (English)

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Giovanni Romeo

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1

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Victor A. McKusick

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2

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English

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publication date

August 1994

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number of pages

3

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Nature Genetics

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volume

7

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issue

4

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page(s)

451-453

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https://scigraph.springernature.com/pub.10.1038/ng0894-451

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Allelism, non-allelism, and genetic compounds among the mucopolysaccharidoses

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21 January 2018

Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease

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21 January 2018

Mutations of the RET proto-oncogene in Hirschsprung's disease

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21 January 2018

Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A.

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21 January 2018

A mutation in the RET proto-oncogene associated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma

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21 January 2018

Genetic identification of Mom-1, a major modifier locus affecting Min-induced intestinal neoplasia in the mouse

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21 January 2018

Penetrating the peroxisome

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21 January 2018

Scheie and Hurler syndromes: apparent identity of the biochemical defect

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7 January 2021

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Mutations in the RET proto-oncogene are associated with MEN 2A and FMTC.

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Single missense mutation in the tyrosine kinase catalytic domain of the RET protooncogene is associated with multiple endocrine neoplasia type 2B

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Point mutation within the tyrosine kinase domain of the RET proto-oncogene in multiple endocrine neoplasia type 2B and related sporadic tumours

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A mutation in CFTR produces different phenotypes depending on chromosomal background

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7 January 2021

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Fatal familial insomnia and familial Creutzfeldt-Jakob disease: disease phenotype determined by a DNA polymorphism

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7 January 2021

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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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Identifiers

DOI

10.1038/NG0894-451

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1000859773

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PubMed publication ID

7951309

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(Q58588355)

Phenotypic diversity, allelic series and modifier genes

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