Varaico: Literature-Extracted Genetic Variants

Gene:ABCA13
Variant:p.S3704R
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ABCA13

NM_152701.5:p.S3704R

Associated Papers

Congenital diaphragmatic hernia as a part of Nance-Horan syndrome?

Kammoun M et al.

European Journal of Human Genetics : Ejhg, 2018

MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.

Mort M et al.

Genome Biology, 2014

24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf

Phenotype prediction of non-synonymous single-nucleotide polymorphisms in human ATP-binding cassette transporter genes.

Wang LL et al.

Basic & Clinical Pharmacology & Toxicology, 2011

A cytogenetic abnormality and rare coding variants identify ABCA13 as a candidate gene in schizophrenia, bipolar disorder, and depression.

Knight HM et al.

American Journal of Human Genetics, 2009

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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."