Varaico: Literature-Extracted Genetic Variants

Gene:YTHDC2
Variant:p.C885S
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YTHDC2

NM_022828.5:p.C885S

Associated Papers

A Germline Mutation in the C2 Domain of PLCγ2 Associated with Gain-of-Function Expands the Phenotype for PLCG2-Related Diseases.

Novice T et al.

Journal of Clinical Immunology, 2020

31853824 (PubMed )
Supplement: 10875_2019_731_MOESM1_ESM.xlsx › Sheet1

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 692.274
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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."