Varaico: Literature-Extracted Genetic Variants

Gene:TERB1
Variant:p.E326G
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TERB1

NM_001136505.2:p.E326G

Associated Papers

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

A comprehensive study of common and rare genetic variants in spermatogenesis-related loci identifies new risk factors for idiopathic severe spermatogenic failure.

Guzmán-Jiménez A et al.

Human Reproduction Open, 2024

39678461 (PubMed )
Supplement: hoae069_supplementary_data.zip › supplementary_tables.xlsx › S12

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

Disruption of human meiotic telomere complex genes TERB1, TERB2 and MAJIN in men with non-obstructive azoospermia.

Salas-Huetos A et al.

Human Genetics, 2021

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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."