Varaico: Literature-Extracted Genetic Variants

Gene:PSMC3IP
Variant:p.E113Splc
Back to variants list

PSMC3IP

NM_016556.4:p.E113Splc

Associated Papers

Systems-Level Integration of Multi-Omics Identifies Genetic Modifiers of TANGO2 Deficiency Disorder.

Airoldi M et al.

Biomolecules, 2025

Genetic control of meiosis surveillance mechanisms in mammals.

Huang Y et al.

Frontiers in Cell and Developmental Biology, 2023

36910159 (PubMed )
Supplement: DataSheet2.PDF

GT198 (PSMC3IP) germline variants in early-onset breast cancer patients from hereditary breast and ovarian cancer families.

Schubert S et al.

Genes & Cancer, 2017

No mutations in the PSMC3IP gene identified in a Swedish cohort of women with primary ovarian insufficiency.

Norling A et al.

Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2014

Inactivating Mutations in GT198 in Familial and Early-Onset Breast and Ovarian Cancers.

Peng M et al.

Genes & Cancer, 2013

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."