Varaico: Literature-Extracted Genetic Variants

Gene:GJC2
Variant:p.R203H
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GJC2

NM_020435.4:p.R203H

Associated Papers

A high definition picture of somatic mutations in chronic lymphoproliferative disorder of natural killer cells.

Gasparini VR et al.

Blood Cancer Journal, 2020

32321919 (PubMed )
Supplement: 41408_2020_309_MOESM4_ESM.pdf

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 341.162
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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."