Varaico: Literature-Extracted Genetic Variants

Gene:MCM3AP
Variant:p.S102L
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MCM3AP

NM_003906.5:p.S102L

Associated Papers

MCM3AP and POMP Mutations Cause a DNA-Repair and DNA-Damage-Signaling Defect in an Immunodeficient Child.

Gatz SA et al.

Human Mutation, 2016

Identification of cancer predisposition variants in apparently healthy individuals using a next-generation sequencing-based family genomics approach.

Karageorgos I et al.

Human Genomics, 2015

26092435 (PubMed )
Supplement: 40246_2015_34_MOESM1_ESM.xlsx › FamilyA

Variants in the ATM-BRCA2-CHEK2 axis predispose to chronic lymphocytic leukemia.

Rudd MF et al.

Blood, 2006

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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."