Varaico: Literature-Extracted Genetic Variants

Gene:ABCE1
Variant:p.P243A
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ABCE1

NM_002940.3:p.P243A

Associated Papers

Whole-exome sequencing in obsessive-compulsive disorder identifies rare mutations in immunological and neurodevelopmental pathways.

Cappi C et al.

Translational Psychiatry, 2016

Atypical manifestation of LRBA deficiency with predominant IBD-like phenotype.

Serwas NK et al.

Inflammatory Bowel Diseases, 2015

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

Wang LL et al.

Basic & Clinical Pharmacology & Toxicology, 2011

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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."