Varaico: Literature-Extracted Genetic Variants

Gene:ACTL7A
Variant:p.A245T
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ACTL7A

NM_006687.4:p.A245T

Associated Papers

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

Gao Y et al.

Human Reproduction Update, 2026

Novel ACTL7A variants in males lead to fertilization failure and male infertility.

Wang M et al.

Andrology, 2025

Unraveling the mysteries of early embryonic arrest: genetic factors and molecular mechanisms.

Zhang J et al.

Journal of Assisted Reproduction and Genetics, 2024

Loss of ACTL7A causes small head sperm by defective acrosome-acroplaxome-manchette complex.

Zhang Y et al.

Reproductive Biology and Endocrinology : Rb&e, 2023

A novel homozygous mutation in ACTL7A leads to male infertility.

Zhou X et al.

Molecular Genetics and Genomics : Mgg, 2023

Pathogenic variant in ACTL7A causes severe teratozoospermia characterized by bubble-shaped acrosomes and male infertility.

Dai J et al.

Molecular Human Reproduction, 2022

Novel bi-allelic variants in ACTL7A are associated with male infertility and total fertilization failure.

Wang J et al.

Human Reproduction (oxford, England), 2021

Disruption in ACTL7A causes acrosomal ultrastructural defects in human and mouse sperm as a novel male factor inducing early embryonic arrest.

Xin A et al.

Science Advances, 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."