Varaico: Literature-Extracted Genetic Variants

Gene:GNAS
Variant:p.R200G
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GNAS

NM_001077488.5:p.R200G

Associated Papers

Identification of de novo variants in nonsyndromic cleft lip with/without cleft palate patients with low polygenic risk scores.

Ishorst N et al.

Molecular Genetics & Genomic Medicine, 2023

36468602 (PubMed )
Supplement: MGG3-11-e2109-s001.pdf

A positive genotype-phenotype correlation in a large cohort of patients with Pseudohypoparathyroidism Type Ia and Pseudo-pseudohypoparathyroidism and 33 newly identified mutations in the GNAS gene.

Thiele S et al.

Molecular Genetics & Genomic Medicine, 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."