Varaico: Literature-Extracted Genetic Variants

Gene:BSCL2
Variant:p.Q39R
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BSCL2

NM_001122955.4:p.Q39R

Associated Papers

C to U RNA editing of MFN1 is regulated by ADARB1 and associates with favourable prognosis in chronic lymphocytic leukemia.

Gonzalez Martinez A et al.

Scientific Reports, 2025

40813454 (PubMed )
Supplement: 41598_2025_15666_MOESM6_ESM.xlsx › Exp_1_Flag_vs_ADARB1

Deafness DFNB128 Associated with a Recessive Variant of Human MAP3K1 Recapitulates Hearing Loss of Map3k1-Deficient Mice.

Faridi R et al.

Genes, 2024

39062623 (PubMed )
Supplement: genes-15-00845-s001.zip › genes-3045527-Table_S4.xlsx › PKDF1419_SumandMuh_121423_Genet

Charcot-Marie-Tooth disease with pyramidal features due to a new mutation of EGR2 gene.

Fusco C et al.

Acta Bio-medica : Atenei Parmensis, 2019

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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."