Varaico: Literature-Extracted Genetic Variants

Gene:PPP1CB
Variant:p.D63G
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PPP1CB

NM_002709.3:p.D63G

Associated Papers

High frequency of hotspot mutation in PTPN11 gene among Moroccan patients with Noonan syndrome.

Ouboukss F et al.

Journal of Applied Genetics, 2024

Phenotype-genotype analysis of 242 individuals with RASopathies: 18-year experience of a tertiary center in Brazil.

Bertola DR et al.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2020

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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."