Varaico: Literature-Extracted Genetic Variants

Gene:NUP107
Variant:p.R355C
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NUP107

NM_020401.4:p.R355C

Associated Papers

Arab founder variants: Contributions to clinical genomics and precision medicine.

AlAbdi L et al.

Med (new York, N.y.), 2025

From the sideline: Tissue-specific nucleoporin function in health and disease, an update.

Jühlen R et al.

Febs Letters, 2023

iPSCs derived from infertile men carrying complex genetic abnormalities can generate primordial germ-like cells.

Mouka A et al.

Scientific Reports, 2022

Meiotic genes in premature ovarian insufficiency: variants in HROB and REC8 as likely genetic causes.

Tucker EJ et al.

European Journal of Human Genetics : Ejhg, 2022

Meiotic Recombination Defects and Premature Ovarian Insufficiency.

Huang C et al.

Frontiers in Cell and Developmental Biology, 2021

Genetics of Primary Ovarian Insufficiency in the Next-Generation Sequencing Era.

França MM et al.

Journal of the Endocrine Society, 2020

Functional study of a novel missense single-nucleotide variant of NUP107 in two daughters of Mexican origin with premature ovarian insufficiency.

Ren Y et al.

Molecular Genetics & Genomic Medicine, 2018

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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."