Varaico: Literature-Extracted Genetic Variants

Gene:GABRQ
Variant:p.N52S
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GABRQ

NM_018558.4:p.N52S

Associated Papers

Analysis of the effects of rare variants on splicing identifies alterations in GABAA receptor genes in autism spectrum disorder individuals.

Piton A et al.

European Journal of Human Genetics : Ejhg, 2013

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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."