Varaico: Literature-Extracted Genetic Variants

Gene:DYSF
Variant:p.P902insFs
Back to variants list

DYSF

NM_003494.4:p.P902insFs

Associated Papers

Causative variants linked with limb girdle muscular dystrophy in an Iranian population: 6 novel variants.

Mianesaz H et al.

Molecular Genetics & Genomic Medicine, 2023

Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness.

Töpf A et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

32528171 (PubMed )
Supplement: 41436_2020_840_MOESM10_ESM.xlsx › .

Genetic variability in Iranian limb-girdle muscular dystrophy type 2B patients: An evidence of a founder effect.

Mojbafan M et al.

Molecular Genetics & Genomic Medicine, 2019

Muscular dystrophy with marked Dysferlin deficiency is consistently caused by primary dysferlin gene mutations.

Cacciottolo M et al.

European Journal of Human Genetics : Ejhg, 2011

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."