Varaico: Literature-Extracted Genetic Variants

Gene:WWC1
Variant:p.R250C
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WWC1

NM_015238.3:p.R250C

Associated Papers

Whole-exome sequencing identifies high-confidence genes for tic disorders in a Chinese Han population.

Lu Q et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2024

Novel compound heterozygous MYO7A mutations in Moroccan families with autosomal recessive non-syndromic hearing loss.

Bakhchane A et al.

Plos One, 2017

28472130 (PubMed )
Supplement: pone.0176516.s002.xlsx › Feuil1

Exome Sequence Data From Multigenerational Families Implicate AMPA Receptor Trafficking in Neurocognitive Impairment and Schizophrenia Risk.

Kos MZ et al.

Schizophrenia Bulletin, 2016

Common exonic missense variants in the C2 domain of the human KIBRA protein modify lipid binding and cognitive performance.

Duning K et al.

Translational Psychiatry, 2013

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeII-
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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."