Varaico: Literature-Extracted Genetic Variants

Gene:ZNHIT2
Variant:p.R384W
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ZNHIT2

NM_014205.4:p.R384W

Associated Papers

Exome sequencing identified a novel missense mutation c.464G>A (p.G155D) in Ca2+-binding protein 4 (CABP4) in a Chinese pedigree with autosomal dominant nocturnal frontal lobe epilepsy.

Chen ZH et al.

Oncotarget, 2017

Whole-exome sequencing identifies Y1495X of SCN5A to be associated with familial conduction disease and sudden death.

Tan ZP et al.

Scientific Reports, 2014

25010007 (PubMed )
Supplement: srep05616-s2.xls › dominant_result_new

First somatic mutation of E2F1 in a critical DNA binding residue discovered in well-differentiated papillary mesothelioma of the peritoneum.

Yu W et al.

Genome Biology, 2011

21955916 (PubMed )
Supplement: gb-2011-12-9-r96-S2.XLSX › Sheet1
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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."