Varaico: Literature-Extracted Genetic Variants

Gene:AK7
Variant:p.L673R
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AK7

NM_152327.5:p.L673R

Associated Papers

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

Sha Y et al.

Ebiomedicine, 2023

Adenylate Kinase: A Ubiquitous Enzyme Correlated with Medical Conditions.

Ionescu MI

The Protein Journal, 2019

Corrigendum: Homozygous missense mutation L673P in adenylate kinase 7 (AK7) leads to primary male infertility and multiple morphological anomalies of the flagella but not to primary ciliary dyskinesia.

Lorès P et al.

Human Molecular Genetics, 2019

Homozygous missense mutation L673P in adenylate kinase 7 (AK7) leads to primary male infertility and multiple morphological anomalies of the flagella but not to primary ciliary dyskinesia.

Lorès P et al.

Human Molecular Genetics, 2018

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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."