Varaico: Literature-Extracted Genetic Variants

Gene:CASK
Variant:p.G197R
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CASK

NM_001367721.1:p.G197R

Associated Papers

Structural Analysis Implicates CASK-Liprin-α2 Interaction in Cerebellar Granular Cell Death in MICPCH Syndrome.

Guo Q et al.

Cells, 2023

Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.

Zhang Y et al.

Molecular Neurobiology, 2021

33860439 (PubMed )
Supplement: 12035_2021_2377_MOESM14_ESM.xlsx › NDD_probands__public_

Structural Basis for the High-Affinity Interaction between CASK and Mint1.

Wu X et al.

Structure (london, England : 1993), 2020

Systematic reconstruction of autism biology from massive genetic mutation profiles.

Luo W et al.

Science Advances, 2018

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

Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model.

Guo H et al.

Molecular Autism, 2018

30564305 (PubMed )
Supplement: 13229_2018_247_MOESM5_ESM.xlsx › MIS30_

A novel CASK mutation identified in siblings exhibiting developmental disorders with/without microcephaly.

Seto T et al.

Intractable & Rare Diseases Research, 2017

De novo genic mutations among a Chinese autism spectrum disorder cohort.

Wang T et al.

Nature Communications, 2016

27824329 (PubMed )
Supplement: ncomms13316-s5.xlsx › Supplementary_Data_4

Identification and glycerol-induced correction of misfolding mutations in the X-linked mental retardation gene CASK.

LaConte LE et al.

Plos One, 2014

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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."