Varaico: Literature-Extracted Genetic Variants

Gene:BLM
Variant:p.K657_K661del5
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BLM

NM_000057.4:p.K657_K661del5

Associated Papers

Multi-locus inherited neoplasia alleles syndromes in cancer: implications for clinical practice.

Yuen J et al.

European Journal of Human Genetics : Ejhg, 2025

39843919 (PubMed )
Supplement: 41431_2025_1785_MOESM4_ESM.pdf

Risks of Solid Tumors in Heterozygous Carriers of Recessive Syndromes.

Koudová M et al.

Klinicka Onkologie : Casopis Ceske a Slovenske Onkologicke Spolecnosti, 2019

[Clinical dysmorphic syndromes with tumorigenesis].

Ilenčíková D et al.

Klinicka Onkologie : Casopis Ceske a Slovenske Onkologicke Spolecnosti, 2012

[Hereditary pancreatitis].

Koudová M et al.

Klinicka Onkologie : Casopis Ceske a Slovenske Onkologicke Spolecnosti, 2009

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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."