Varaico: Literature-Extracted Genetic Variants

Gene:ACTL9
Variant:p.S345L
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ACTL9

NM_178525.5:p.S345L

Associated Papers

Homozygous ACTL9 mutations cause irregular mitochondrial sheath arrangement and abnormal flagellum assembly in spermatozoa and male infertility.

Li Q et al.

Journal of Assisted Reproduction and Genetics, 2024

Exonic genetic variants associated with unexpected fertilization failure and zygotic arrest after ICSI: a systematic review.

Torra-Massana M et al.

Zygote (cambridge, England), 2023

Gene mutations associated with fertilization failure after in vitro fertilization/intracytoplasmic sperm injection.

Xue Y et al.

Frontiers in Endocrinology, 2022

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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."