Varaico: Literature-Extracted Genetic Variants

Gene:CLN6
Variant:p.V148D
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CLN6

NM_017882.3:p.V148D

Associated Papers

Rational confederation of genes and diseases: NGS interpretation via GeneCards, MalaCards and VarElect.

Rappaport N et al.

Biomedical Engineering Online, 2017

iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Wang M et al.

Scientific Reports, 2016

27527004 (PubMed )
Supplement: srep31321-s3.xls › NovelVar

Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios.

Zhu X et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2015

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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."