Varaico: Literature-Extracted Genetic Variants

Gene:MYH2
Variant:p.R1218*
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MYH2

NM_017534.6:p.R1218*

Associated Papers

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 › DbLOF

Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use.

Husson T et al.

Translational Psychiatry, 2020

32094338 (PubMed )
Supplement: 41398_2020_760_MOESM2_ESM.xlsx › De_novo

Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders.

Guo H et al.

Nature Communications, 2019

31616000 (PubMed )
Supplement: 41467_2019_12435_MOESM2_ESM.xls › Supp._Data_1

Identification of the Germline Mutation Profile in Esophageal Squamous Cell Carcinoma by Whole Exome Sequencing.

Deng J et al.

Frontiers in Genetics, 2019

30833958 (PubMed )
Supplement: Table_1.XLSX › susceptibility_genes

Systematic reconstruction of autism biology from massive genetic mutation profiles.

Luo W et al.

Science Advances, 2018

29651456 (PubMed )
Supplement: 1701799_TableS5.xlsx › LGD

Associations between Familial Rates of Psychiatric Disorders and De Novo Genetic Mutations in Autism.

Luhrs K et al.

Autism Research and Treatment, 2017

29250444 (PubMed )
Supplement: 9371964.f1.xlsx › SI_Table3
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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."