Varaico: Literature-Extracted Genetic Variants

Gene:BLM
Variant:p.K1057_H1058insFs
Back to variants list

BLM

NM_000057.4:p.K1057_H1058insFs

Associated Papers

Increased Frequency of Clonal Hematopoiesis of Indeterminate Potential in Bloom Syndrome Probands and Carriers.

Lin I et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

38370823 (PubMed )
Supplement: media-1.xlsx › Table_1_Bloom_Trios
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."