Varaico: Literature-Extracted Genetic Variants

Gene:MCM10
Variant:p.R582*
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MCM10

NM_018518.5:p.R582*

Associated Papers

Updates of cancer hallmarks in patients with inborn errors of immunity.

Wang Y et al.

Current Opinion in Allergy and Clinical Immunology, 2022

Bi-allelic MCM10 variants associated with immune dysfunction and cardiomyopathy cause telomere shortening.

Baxley RM et al.

Nature Communications, 2021

Congenital Diseases of DNA Replication: Clinical Phenotypes and Molecular Mechanisms.

Schmit M et al.

International Journal of Molecular Sciences, 2021

Human NK cell deficiency as a result of biallelic mutations in MCM10.

Mace EM et al.

The Journal of Clinical Investigation, 2020

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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."