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Article

How to assess the pathogenicity of mutations in Charcot-Marie-Tooth disease and other diseases?

Journal of applied genetics - 1 Jan 2006

Kochański Andrzej

Abstract excerpt

Knowledge whether a certain DNA variant is a pathogenic mutation or a harmless polymorphism is a critical issue in medical genetics, in which results of a molecular analysis may serve as a basis for diagnosis and genetic counseling. Due to its genetic heterogeneity expressed at the levels of loci, genes and mutations, Charcot-Marie-Tooth (CMT) disease can serve as a model group of clinically homogenous diseases...

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PMID: 16877806
DOI: 10.1007/BF03194633

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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