Identical mutations and phenotypic variation.

doi:10.1007/s004390050509

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Article

Identical mutations and phenotypic variation.

Human genetics - 1 Sept 1997

Wolf U

Abstract excerpt

The relationship between pathogenetic mutations and disease phenotype is becoming increasingly complex. Well-delineated clinical entities can be genetically heterogeneous, and mutations in a particular gene may result in fundamental clinical differences. Genetic heterogeneity includes mutations a...

Topics

Genetic Diseases, Inborn
Genetic Variation
Humans
Mutation
Phenotype

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