Varaico: Literature-Extracted Genetic Variants

Gene:AKAP3
Variant:p.C15Y
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AKAP3

NM_001278309.2:p.C15Y

Associated Papers

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

Gao Y et al.

Human Reproduction Update, 2026

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

Zhou Y et al.

Genes, 2024

Homozygous variants in AKAP3 induce asthenoteratozoospermia and male infertility.

Liu C et al.

Journal of Medical Genetics, 2023

Clinical and Genetic Analysis of CHD7 Expands the Genotype and Phenotype of CHARGE Syndrome.

Qin Z et al.

Frontiers in Genetics, 2020

32625235 (PubMed )
Supplement: Data_Sheet_1.zip › Supplementary_Table_2.XLSX › patient_1
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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."