Varaico: Literature-Extracted Genetic Variants

Gene:RIT1
Variant:p.Q79R
Back to variants list

RIT1

NM_006912.6:p.Q79R

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

Modeling (not so) rare developmental disorders associated with mutations in the protein-tyrosine phosphatase SHP2.

Solman M et al.

Frontiers in Cell and Developmental Biology, 2022

Molecular and clinical studies in 107 Noonan syndrome affected individuals with PTPN11 mutations.

Athota JP et al.

Bmc Medical Genetics, 2020

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."