Varaico: Literature-Extracted Genetic Variants

Gene:ABCA13
Variant:p.H3609P
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ABCA13

NM_152701.5:p.H3609P

Associated Papers

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

Kammoun M et al.

European Journal of Human Genetics : Ejhg, 2018

How well do whole exome sequencing results correlate with medical findings? A study of 89 Mayo Clinic Biobank samples.

Middha S et al.

Frontiers in Genetics, 2015

26257771 (PubMed )
Supplement: Table12.XLSX › snv.tier2

Investigation of rare non-synonymous variants at ABCA13 in schizophrenia and bipolar disorder.

Dwyer S et al.

Molecular Psychiatry, 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

ABCA13 dysfunction associated with psychiatric disorders causes impaired cholesterol trafficking.

Nakato M et al.

The Journal of Biological Chemistry, 0

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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."