Associated Papers
Variants in DTNA cause a mild, dominantly inherited muscular dystrophy.
Nascimento A et al.
Acta Neuropathologica, 2023
Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis.
Panneman DM et al.
Frontiers in Cell and Developmental Biology, 2023
36819107 (PubMed )
Supplement: Table4.xlsx › Results
Clinical and genetic characteristics and prenatal diagnosis of patients presented GDD/ID with rare monogenic causes.
Lin L et al.
Orphanet Journal of Rare Diseases, 2020
Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa.
Xu M et al.
Human Molecular Genetics, 2016
PhenoHM: human-mouse comparative phenome-genome server.
Sardana D et al.
Nucleic Acids Research, 2010
20507906 (PubMed )
Supplement: gkq472_nar-00429-web-b-2010-File006.xls › MPO_to_OMIM_allelic_Variants
Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease.
Hehr U et al.
Neurogenetics, 2007
Glycosylation in congenital muscular dystrophies.
Endo T et al.
Biological & Pharmaceutical Bulletin, 2003
Select a paper to view details