Varaico: Literature-Extracted Genetic Variants

Gene:DYSF
Variant:p.C1971R
Back to variants list

DYSF

NM_003494.4:p.C1971R

Associated Papers

Miyoshi Muscular Dystrophy Type 1 with Mutated DYSF Gene Misdiagnosed as Becker Muscular Dystrophy: A Case Report and Literature Review.

Park J et al.

Genes, 2023

Null variants in DYSF result in earlier symptom onset.

Park HJ et al.

Clinical Genetics, 2021

Targeted next-generation sequencing for the genetic diagnosis of dysferlinopathy.

Shin HY et al.

Neuromuscular Disorders : Nmd, 2015

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."