Varaico: Literature-Extracted Genetic Variants

Gene:GJB6
Variant:p.N230fs
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GJB6

NM_001110219.3:p.N230fs

Associated Papers

Whole-genome sequencing of quartet families with autism spectrum disorder.

Yuen RK et al.

Nature Medicine, 2015

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 838.321
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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."