Varaico: Literature-Extracted Genetic Variants

Gene:NBN
Variant:p.L421S
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NBN

NM_002485.5:p.L421S

Associated Papers

[Next generation sequencing in pediatric bone marrow failure: a valuable tool for accurate diagnosis].

Pacheco-Orozco RA et al.

Andes Pediatrica : Revista Chilena De Pediatria, 2024

Analysis of Sequence and Copy Number Variants in Canadian Patient Cohort With Familial Cancer Syndromes Using a Unique Next Generation Sequencing Based Approach.

Bhai P et al.

Frontiers in Genetics, 2021

34326862 (PubMed )
Supplement: Data_Sheet_1.zip › Supplementary_files › Supplementary_Table_S4.xlsx › Every_test

NBN Gene Analysis and it's Impact on Breast Cancer.

Nithya P et al.

Journal of Medical Systems, 2019

Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome.

Yurgelun MB et al.

Gastroenterology, 2015

Unique DNA repair gene variations and potential associations with the primary antibody deficiency syndromes IgAD and CVID.

Offer SM et al.

Plos One, 2010

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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."