Varaico: Literature-Extracted Genetic Variants

Gene:DMD
Variant:p.S142fs
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DMD

NM_004006.3:p.S142fs

Associated Papers

A retrospective cohort study and review of the literature about germline mosaicism in Duchenne/Becker muscular dystrophy prenatal counseling: How to estimate the recurrence risk in clinical settings?

Verebi C et al.

Journal of Genetic Counseling, 2025

38895972 (PubMed )
Supplement: JGC4-34-0-s001.xlsx › Feuille_1
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."