Varaico: Literature-Extracted Genetic Variants

Gene:ANK3
Variant:p.N3789S
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ANK3

NM_020987.5:p.N3789S

Associated Papers

Identification of candidate genetic variants and altered protein expression in neural stem and mature neural cells support altered microtubule function to be an essential component in bipolar disorder.

Truvé K et al.

Translational Psychiatry, 2020

33168801 (PubMed )
Supplement: 41398_2020_1056_MOESM7_ESM.xlsx › Sheet1

Whole exome sequencing identified mutations causing hearing loss in five consanguineous Pakistani families.

Zhou Y et al.

Bmc Medical Genetics, 2020

32682410 (PubMed )
Supplement: 12881_2020_1087_MOESM1_ESM.xlsx › HL1

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1871.656

Re-sequencing of ankyrin 3 exon 48 and case-control association analysis of rare variants in bipolar disorder type I.

Doyle GA et al.

Bipolar Disorders, 2012

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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."