Varaico: Literature-Extracted Genetic Variants

Gene:KASH5
Variant:p.L535Q
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KASH5

NM_144688.5:p.L535Q

Associated Papers

Genetic and epigenetic insights into non-obstructive azoospermia: mechanisms, biomarkers, and clinical perspectives.

Wang X et al.

Reproductive Biology and Endocrinology : Rb&e, 2025

Telomeric function and regulation during male meiosis in mice and humans.

Yin L et al.

Andrology, 2025

Genetic determinants of testicular sperm extraction outcomes: insights from a large multicentre study of men with non-obstructive azoospermia.

Riera-Escamilla A et al.

Human Reproduction Open, 2025

40896145 (PubMed )
Supplement: hoaf049_supplementary_data.zip › HRO-25-0045-R2-SuppTablesS2-S4_and_S6-S9.xlsx › ST4

Defects in meiosis I contribute to the genesis of androgenetic hydatidiform moles.

Rezaei M et al.

The Journal of Clinical Investigation, 2024

39545410 (PubMed )
Supplement: jci-134-170669-s066.pdf

Genetic variants underlying spermatogenic arrests in men with non-obstructive azoospermia.

Ozturk S

Cell Cycle (georgetown, Tex.), 2023

Diverse monogenic subforms of human spermatogenic failure.

Nagirnaja L et al.

Nature Communications, 2022

36572685 (PubMed )
Supplement: 41467_2022_35661_MOESM3_ESM.xlsx › Supplementary_Data_1

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

Yang C et al.

Molecular Human Reproduction, 2022

A human infertility-associated KASH5 variant promotes mitochondrial localization.

Bentebbal SA et al.

Scientific Reports, 2021

A genomics approach to male infertility.

Alhathal N et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

Point-of-care whole-exome sequencing of idiopathic male infertility.

Fakhro KA et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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."