Varaico: Literature-Extracted Genetic Variants

Gene:KASH5
Variant:p.A249A
Back to variants list

KASH5

NM_144688.5:p.A249A

Associated Papers

Advances in monogenic female infertility.

Gu H et al.

Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2025

Innovative all-in-one exome sequencing strategy for diagnostic genetic testing in male infertility: Validation and 10-month experience.

Oud MS et al.

Andrology, 2025

39180390 (PubMed )
Supplement: ANDR-13-1078-s002.xlsx › Table_SIII

Understanding the Mechanisms of Diminished Ovarian Reserve: Insights from Genetic Variants and Regulatory Factors.

Zhu Q et al.

Reproductive Sciences (thousand Oaks, Calif.), 2024

Genomic characteristics and immune landscape of super multiple primary lung cancer.

Yang Z et al.

Ebiomedicine, 2024

38364701 (PubMed )
Supplement: mmc6.xlsx › Sheet1

Genetic control of meiosis surveillance mechanisms in mammals.

Huang Y et al.

Frontiers in Cell and Developmental Biology, 2023

36910159 (PubMed )
Supplement: DataSheet2.PDF

Homozygous Variant in KASH5 Causes Premature Ovarian Insufficiency by Disordered Meiotic Homologous Pairing.

Zhang Q et al.

The Journal of Clinical Endocrinology and Metabolism, 2022

Novel bi-allelic variants in KASH5 are associated with meiotic arrest and non-obstructive azoospermia.

Yang C et al.

Molecular Human Reproduction, 2022

Sequencing of a central nervous system tumor demonstrates cancer transmission in an organ transplant.

Gingras MC et al.

Life Science Alliance, 2021

34301805 (PubMed )
Supplement: LSA-2020-00941_TableS2.xlsx › Table_S2
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."