Varaico: Literature-Extracted Genetic Variants

Gene:ANKS1A
Variant:p.T547M
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ANKS1A

NM_015245.3:p.T547M

Associated Papers

Identification of a novel variant in N-cadherin associated with dilated cardiomyopathy.

Chen Y et al.

Frontiers in Medicine, 2022

36111109 (PubMed )
Supplement: Table_3.XLSX › rare_varaints

Single-cell transcriptome identifies molecular subtype of autism spectrum disorder impacted by de novo loss-of-function variants regulating glial cells.

Nassir N et al.

Human Genomics, 2021

34802461 (PubMed )
Supplement: 40246_2021_368_MOESM2_ESM.xlsx › DbMS-non_synonymous_ex

Patterns and rates of exonic de novo mutations in autism spectrum disorders.

Neale BM et al.

Nature, 2012

22495311 (PubMed )
Supplement: NIHMS361899-supplement-2.xls › De_Novo_Mutations
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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."