Varaico: Literature-Extracted Genetic Variants

Gene:NBN
Variant:p.R169H
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NBN

NM_002485.5:p.R169H

Associated Papers

Integrative genomic and transcriptomic analyses illuminate the ontology of HER2-low breast carcinomas.

Berrino E et al.

Genome Medicine, 2022

36038884 (PubMed )
Supplement: 13073_2022_1104_MOESM10_ESM.xlsx › Supplementary_Table_S5

Prospective Statewide Study of Universal Screening for Hereditary Colorectal Cancer: The Ohio Colorectal Cancer Prevention Initiative.

Pearlman R et al.

Jco Precision Oncology, 2021

Germline SDHB-inactivating mutation in gastric spindle cell sarcoma.

Heilig CE et al.

Genes, Chromosomes & Cancer, 2020

Human RAD50 deficiency: Confirmation of a distinctive phenotype.

Ragamin A et al.

American Journal of Medical Genetics. Part A, 2020

Germline Pathogenic Variants in 7636 Japanese Patients With Prostate Cancer and 12 366 Controls.

Momozawa Y et al.

Journal of the National Cancer Institute, 2020

31214711 (PubMed )
Supplement: djz124_supplementary_data.zip › djz124-Suppl_Data › Supplementary_Tables_5_and_6_060619.xlsx › Supplementary_Table_6

Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls.

Momozawa Y et al.

Nature Communications, 2018

30287823 (PubMed )
Supplement: 41467_2018_6581_MOESM4_ESM.xlsx › SD1

Human RAD50 deficiency in a Nijmegen breakage syndrome-like disorder.

Waltes R et al.

American Journal of Human Genetics, 2009

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