Varaico: Literature-Extracted Genetic Variants

Gene:POMT1
Variant:p.F59C
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POMT1

NM_001077365.2:p.F59C

Associated Papers

Structure of the eukaryotic protein O-mannosyltransferase Pmt1-Pmt2 complex.

Bai L et al.

Nature Structural & Molecular Biology, 2019

31285605 (PubMed )
Supplement: NIHMS1530499-supplement-2.pdf

Clinical long-time course, novel mutations and genotype-phenotype correlation in a cohort of 27 families with POMT1-related disorders.

Geis T et al.

Orphanet Journal of Rare Diseases, 2019

31311558 (PubMed )
Supplement: 13023_2019_1119_MOESM1_ESM.xlsx › POMT1_list_of_all_mutations

Dystroglycanopathy with two novel POMT1 mutations in a Chinese boy with developmental delay and muscular dystrophy.

Chong YK et al.

European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2014

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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."