Varaico: Literature-Extracted Genetic Variants

Gene:RIT1
Variant:p.R112P
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RIT1

NM_006912.6:p.R112P

Associated Papers

Relationship Between Genotype Status and Clinical Outcome in Hypertrophic Cardiomyopathy.

Bonaventura J et al.

Journal of the American Heart Association, 2024

38757491 (PubMed )
Supplement: JAH3-13-e033565-s001.pdf

Prenatal case of RIT1 mutation associated Noonan syndrome by whole exome sequencing (WES) and review of the literature.

Qiu Z et al.

Taiwanese Journal of Obstetrics & Gynecology, 2022

Disruption of the glomerular basement membrane associated with nutcracker syndrome and double inferior vena cava in Noonan syndrome: a case report.

Omori A et al.

Bmc Nephrology, 2022

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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."