https://www.ncbi.nlm.nih.gov/clinvar/RCV001040069/
NM_001130987.2(DYSF):c.4387+2TC AND Neuromuscular disease caused by qualitative or quantitative...
ClinVar archives and aggregates information about relationships among variation and human health.
https://www.ncbi.nlm.nih.gov/clinvar/RCV000356959/
NM_001130987.2(DYSF):c.2477GA (p.Arg826Gln) AND not provided - ClinVar - NCBI
ClinVar archives and aggregates information about relationships among variation and human health.