Varaico: Literature-Extracted Genetic Variants

Gene:AKAP11
Variant:p.G1082V
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AKAP11

NM_016248.4:p.G1082V

Associated Papers

Associations of Rare Variants in the AKAP11 Gene with Bipolar Disorder in Chinese Population.

Zhang Y et al.

Neuropsychiatric Disease and Treatment, 2025

Whole-exome sequencing identifies Y1495X of SCN5A to be associated with familial conduction disease and sudden death.

Tan ZP et al.

Scientific Reports, 2014

25010007 (PubMed )
Supplement: srep05616-s2.xls › dominant_result_new

TBX1 mutation identified by exome sequencing in a Japanese family with 22q11.2 deletion syndrome-like craniofacial features and hypocalcemia.

Ogata T et al.

Plos One, 2014

24637876 (PubMed )
Supplement: pone.0091598.s006.pdf
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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."