Varaico: Literature-Extracted Genetic Variants

Gene:TERB1
Variant:p.L97fs
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TERB1

NM_001136505.2:p.L97fs

Associated Papers

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

Genetic dissection of spermatogenic arrest through exome analysis: clinical implications for the management of azoospermic men.

Krausz C 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."