Varaico: Literature-Extracted Genetic Variants

Gene:RASGRP2
Variant:p.S489C
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RASGRP2

NM_001098671.2:p.S489C

Associated Papers

Elucidating the Molecular Basis in a Cohort of Patients With Combined Bleeding Tendencies and Joint Hypermobility Manifestations.

Bandini P et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2025

41178378 (PubMed )
Supplement: HAE-32-185-s002.pdf

Immunogenomic analysis of human brain metastases reveals diverse immune landscapes across genetically distinct tumors.

Álvarez-Prado ÁF et al.

Cell Reports. Medicine, 2023

36652909 (PubMed )
Supplement: mmc4.xlsx › BrM_Val4

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1861.653
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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."