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Article

Functional analysis of variants in DMD exon/intron 10 predicted to affect splicing.

Journal of human genetics - 1 Aug 2022

Zhang Xinxin, Chen Xiangliang, Chen Jie, Ma Yuanchun, Huang Shaoping, Cai Mengru, Wang Lei, Yi Long

Abstract excerpt

Duchenne muscular dystrophy (DMD, MIM #310200) and Becker muscular dystrophy (BMD, MIM #300376) are X-linked recessive hereditary diseases caused by pathogenic variants in the DMD gene. Genetic testing of DMD identifies a certain number of variants of uncertain clinical significance (VUS) whose functional interpretations pose a challenge for gene-based diagnosis. To improve the accuracy of variant interpretation...

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Identifiers

PMID: 35428841
DOI: 10.1038/s10038-022-01035-y

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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