Varaico: Literature-Extracted Genetic Variants

Gene:MCM8
Variant:p.C155Y
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MCM8

NM_032485.6:p.C155Y

Associated Papers

Structural study of the N-terminal domain of human MCM8/9 complex.

Li J et al.

Structure (london, England : 1993), 2021

Novel loss-of-function mutation in MCM8 causes premature ovarian insufficiency.

Zhang YX et al.

Molecular Genetics & Genomic Medicine, 2020

MCM8 and MCM9 Nucleotide Variants in Women With Primary Ovarian Insufficiency.

Desai S et al.

The Journal of Clinical Endocrinology and Metabolism, 2017

Minichromosome maintenance complex component 8 mutations cause primary ovarian insufficiency.

Dou X et al.

Fertility and Sterility, 2016

Application of whole genome and RNA sequencing to investigate the genomic landscape of common variable immunodeficiency disorders.

van Schouwenburg PA et al.

Clinical Immunology (orlando, Fla.), 2015

26122175 (PubMed )
Supplement: NIHMS64345-supplement-Supplementary_tables.xlsx › Table_S10
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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."