Varaico: Literature-Extracted Genetic Variants

Gene:PSMC3IP
Variant:p.F199_E200Splc
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PSMC3IP

NM_016556.4:p.F199_E200Splc

Associated Papers

DNA double-strand break genetic variants in patients with premature ovarian insufficiency.

Ding X et al.

Journal of Ovarian Research, 2023

Landscape of pathogenic mutations in premature ovarian insufficiency.

Ke H et al.

Nature Medicine, 2023

36732629 (PubMed )
Supplement: 41591_2022_2194_MOESM2_ESM.xlsx › Supplementary_Table_9

The landscape of genetic variations in non-syndromic primary ovarian insufficiency in the MENA region: a systematic review.

Allouch A et al.

Frontiers in Endocrinology, 2023

Biallelic mutations in PSMC3IP are associated with secondary amenorrhea: expanding the spectrum of premature ovarian insufficiency.

Sirchia F et al.

Journal of Assisted Reproduction and Genetics, 2022

Two novel biallelic mutations in PSMC3IP in a patient affected by premature ovarian insufficiency.

Mei L et al.

Molecular Medicine Reports, 2022

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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."