Varaico: Literature-Extracted Genetic Variants

Gene:ZC4H2
Variant:p.E65Q
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ZC4H2

NM_018684.4:p.E65Q

Associated Papers

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
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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."