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PMID: 4577464 Published · ppublish English Journal Article

Phenotypic diversity of human diseases resulting from allelic series.

American journal of human genetics ·Vol. 25 ·No. 4 ·1973-07-00 ·Pages 446-56

McKusick VA

Abstract

暂无摘要

MeSH Terms
Alleles Genetic Complementation Test Genetic Diseases, Inborn/genetics Genetic Linkage Humans Metabolism, Inborn Errors/genetics Phenotype Sex Chromosomes
Authors & Affiliations
1 authors, click to expand affiliations / ORCID
McKusick V A
References (31)
31 references, click to expand
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Article Info
Journal
American journal of human genetics
Abbr.
Am J Hum Genet
ISSN
0002-9297
Published
1973-07-00
Pages
446-56
Language
English
Region
United States
NLM ID
0370475
PMCID
PMC1762449
Subset
IM
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