Varaico: Literature-Extracted Genetic Variants

Gene:PLEKHG2
Variant:p.R844P
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PLEKHG2

NM_022835.3:p.R844P

Associated Papers

Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies.

Niceta M et al.

American Journal of Human Genetics, 2015

25865493 (PubMed )
Supplement: mmc1.pdf

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1.1
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