Varaico: Literature-Extracted Genetic Variants

Gene:EDC4
Variant:p.S275G
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EDC4

NM_014329.5:p.S275G

Associated Papers

Exome sequencing in patient-parent trios suggests new candidate genes for early-onset primary sclerosing cholangitis.

Haisma SM et al.

Liver International : Official Journal of the International Association for the Study of the Liver, 2021

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1841.646
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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."