Varaico: Literature-Extracted Genetic Variants

Gene:RBL2
Variant:p.A495V
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RBL2

NM_005611.4:p.A495V

Associated Papers

A novel frameshift variation of PKD1 in familial autosomal dominant polycystic kidney diseases: expanding the clinical phenotype and genetic spectrum of PKD1 disorders.

Chen Q et al.

Bmc Medical Genomics, 2025

41163060 (PubMed )
Supplement: 12920_2025_2248_MOESM1_ESM.xlsx › Sheet1

JAK3 mutations and mitochondrial apoptosis resistance in T-cell acute lymphoblastic leukemia.

Bodaar K et al.

Leukemia, 2022

35411095 (PubMed )
Supplement: NIHMS1792675-supplement-Supplementary_Table_2.xlsx › Sheet_1

Fanconi-BRCA pathway mutations in childhood T-cell acute lymphoblastic leukemia.

Pouliot GP et al.

Plos One, 2019

31721781 (PubMed )
Supplement: pone.0221288.s010.xlsx › SNV

Hedgehog pathway mutations drive oncogenic transformation in high-risk T-cell acute lymphoblastic leukemia.

Burns MA et al.

Leukemia, 2018

29654263 (PubMed )
Supplement: NIHMS944706-supplement-Table_S2.xlsx › Table_S2
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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."