Varaico: Literature-Extracted Genetic Variants

Gene:CEP135
Variant:p.D455V
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CEP135

NM_025009.5:p.D455V

Associated Papers

Next-Generation Sequencing to Detect Mutations for the Molecular Diagnosis of Auditory Neuropathy Spectrum Disorder in a Chinese Series.

Yuan F et al.

The Journal of International Advanced Otology, 2025

Loss of Cep135 causes oligoasthenoteratozoospermia and male infertility in mice.

Liu H et al.

Cellular and Molecular Life Sciences : Cmls, 2025

Genetic etiological spectrum of sperm morphological abnormalities.

Arora M et al.

Journal of Assisted Reproduction and Genetics, 2024

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

Zhou Y et al.

Genes, 2024

Comprehensive evaluation of AlphaMissense predictions by evidence quantification for variants of uncertain significance.

Kurtovic-Kozaric A et al.

Frontiers in Genetics, 2024

39720176 (PubMed )
Supplement: Table1.xlsx › Supplementary_Table_1

The genetic architecture of morphological abnormalities of the sperm tail.

Touré A et al.

Human Genetics, 2021

A systematic review on the genetics of male infertility in the era of next-generation sequencing.

Robay A et al.

Arab Journal of Urology, 2018

A homozygous CEP135 mutation is associated with multiple morphological abnormalities of the sperm flagella (MMAF).

Sha YW et al.

Gene, 2017

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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."