Varaico: Literature-Extracted Genetic Variants

Gene:TERB1
Variant:p.G245R
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TERB1

NM_001136505.2:p.G245R

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

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 › ST6

A report of two homozygous TERB1 protein-truncating variants in two unrelated women with primary infertility.

Yalcin Z et al.

Journal of Assisted Reproduction and Genetics, 2024

Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.

AlAbdi L et al.

Nature Communications, 2023

37644014 (PubMed )
Supplement: 41467_2023_40909_MOESM10_ESM.xlsx › Sheet1

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

Ozturk S

Cell Cycle (georgetown, Tex.), 2023

Genetic control of meiosis surveillance mechanisms in mammals.

Huang Y et al.

Frontiers in Cell and Developmental Biology, 2023

36910159 (PubMed )
Supplement: DataSheet2.PDF

Whole-exome sequencing improves the diagnosis and care of men with non-obstructive azoospermia.

Kherraf ZE et al.

American Journal of Human Genetics, 2022

A genomics approach to male infertility.

Alhathal N et al.

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

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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."