Varaico: Literature-Extracted Genetic Variants

Gene:TDRD7
Variant:p.Y230*
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TDRD7

NM_014290.3:p.Y230*

Associated Papers

The intricate dance of RNA-binding proteins: unveiling the mechanisms behind male infertility.

Gao Y et al.

Human Reproduction Update, 2026

Loss-of-function variant in TDRD6 cause male infertility with severe oligo-astheno-teratozoospermia in human and mice.

Bi X et al.

Journal of Cellular and Molecular Medicine, 2024

39331689 (PubMed )
Supplement: JCMM-28-e18580-s001.docx

Two Pathogenic Gene Mutations Identified Associating with Congenital Cataract and Iris Coloboma Respectively in a Chinese Family.

Li B et al.

Journal of Ophthalmology, 2020

32148946 (PubMed )
Supplement: 7054315.f1.pdf

Loss-of-function mutations in TDRD7 lead to a rare novel syndrome combining congenital cataract and nonobstructive azoospermia in humans.

Tan YQ et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

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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."