Varaico: Literature-Extracted Genetic Variants

Gene:NBN
Variant:p.W375Splc
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NBN

NM_002485.5:p.W375Splc

Associated Papers

Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.

Laurie S et al.

Nature Medicine, 2025

39825153 (PubMed )
Supplement: 41591_2024_3420_MOESM3_ESM.xlsx › SuppTableS4.Disease_Causing

Germline pathogenic variants in PALB2 and other cancer-predisposing genes in families with hereditary diffuse gastric cancer without CDH1 mutation: a whole-exome sequencing study.

Fewings E et al.

The Lancet. Gastroenterology & Hepatology, 2018

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