Varaico: Literature-Extracted Genetic Variants

Gene:BLK
Variant:p.G248R
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BLK

NM_001715.3:p.G248R

Associated Papers

Rare BLK, CEL, KLF11, PDX1, and PAX4 Gene Variants in Russian Patients with Monogenic Diabetes: Clinical and Molecular Characterization.

Khusainova RI et al.

Biomedicines, 2025

Identification of novel pathogenic variants in genes related to pancreatic β cell function: A multi-center study in Chinese with young-onset diabetes.

Yu F et al.

Chinese Medical Journal, 2025

40178110 (PubMed )
Supplement: cm9-138-1129-s001.pdf

Monogenic Childhood Diabetes: Dissecting Clinical Heterogeneity by Next-Generation Sequencing in Maturity-Onset Diabetes of the Young.

Demirci DK et al.

Omics : a Journal of Integrative Biology, 2021

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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."