Varaico: Literature-Extracted Genetic Variants

Gene:WAC
Variant:p.M192_T195delFs
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WAC

NM_016628.5:p.M192_T195delFs

Associated Papers

Genome-wide rare variant score associates with morphological subtypes of autism spectrum disorder.

Chan AJS et al.

Nature Communications, 2022

36309498 (PubMed )
Supplement: 41467_2022_34112_MOESM4_ESM.xlsx › SupData_5

Disease similarity network analysis of Autism Spectrum Disorder and comorbid brain disorders.

Vilela J et al.

Frontiers in Molecular Neuroscience, 2022

36061363 (PubMed )
Supplement: Table_7.xlsx › Rare_de_novo_LoF

A Novel WAC Loss of Function Mutation in an Individual Presenting with Encephalopathy Related to Status Epilepticus during Sleep (ESES).

Leonardi E et al.

Genes, 2020

32214004 (PubMed )
Supplement: genes-11-00344-s001.7z › Supplementary_Table_S2.xlsx › Spectrum

Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder.

Tammimies K et al.

Jama, 2015

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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."