Associated Papers
Novel POMT2 variants associated with limb-girdle muscular dystrophy R14: genetic, histological and functional studies.
Yang G et al.
Orphanet Journal of Rare Diseases, 2025
Genome-wide discovery of human splicing branchpoints.
Mercer TR et al.
Genome Research, 2015
25561518 (PubMed )
Supplement: supp_gr.182899.114_Supplemental_TableS3.xlsx › HGMD_knownBP
POMT2 intragenic deletions and splicing abnormalities causing congenital muscular dystrophy with mental retardation.
Yanagisawa A et al.
European Journal of Medical Genetics, 0
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