Varaico: Literature-Extracted Genetic Variants

Gene:DMD
Variant:p.K1913_E1914Splc
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DMD

NM_004006.3:p.K1913_E1914Splc

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

Protein- and mRNA-based phenotype-genotype correlations in DMD/BMD with point mutations and molecular basis for BMD with nonsense and frameshift mutations in the DMD gene.

Deburgrave N et al.

Human Mutation, 2007

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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."