Varaico: Literature-Extracted Genetic Variants

Gene:AK7
Variant:p.E616K
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AK7

NM_152327.5:p.E616K

Associated Papers

A novel homozygous splicing mutation in AK7 causes multiple morphological abnormalities of sperm flagella in patients from consanguineous Pakistani families.

Hussain A et al.

Asian Journal of Andrology, 2025

The Molecular Basis of Multiple Morphological Abnormalities of Sperm Flagella and Its Impact on Clinical Practice.

Zhou Y et al.

Genes, 2024

Decreased TAX1BP1 participates in systemic lupus erythematosus by regulating monocyte/macrophage function.

Qian T et al.

International Immunology, 2023

Deficiency in AK9 causes asthenozoospermia and male infertility by destabilising sperm nucleotide homeostasis.

Sha Y et al.

Ebiomedicine, 2023

A novel homozygous missense mutation in AK7 causes multiple morphological anomalies of the flagella and oligoasthenoteratozoospermia.

Xiang M et al.

Journal of Assisted Reproduction and Genetics, 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."