Varaico: Literature-Extracted Genetic Variants

Gene:BLM
Variant:p.G692Splc
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BLM

NM_000057.4:p.G692Splc

Associated Papers

Clinical and genetic spectrum of inborn errors of immunity: a retrospective study on outcomes at a single center.

Kose H et al.

Frontiers in Immunology, 2026

Coexistence of Bloom Syndrome and Kostmann Disease and a Novel Mutation.

Pekpak Sahinoglu E et al.

Journal of Pediatric Hematology/oncology, 2024

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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."