Varaico: Literature-Extracted Genetic Variants

Gene:APBA2
Variant:p.T659M
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APBA2

NM_001353788.2:p.T659M

Associated Papers

A rare autism-associated MINT2/APBA2 mutation disrupts neurexin trafficking and synaptic function.

Lin AY et al.

Scientific Reports, 2019

Copy number and sequence variants implicate APBA2 as an autism candidate gene.

Babatz TD et al.

Autism Research : Official Journal of the International Society for Autism Research, 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."