Varaico: Literature-Extracted Genetic Variants

Gene:AURKC
Variant:p.L49fs
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AURKC

NM_001015878.2:p.L49fs

Associated Papers

Stepwise use of genomics and transcriptomics technologies increases diagnostic yield in Mendelian disorders.

Colin E et al.

Frontiers in Cell and Developmental Biology, 2023

Evaluation of a Custom Design Gene Panel as a Diagnostic Tool for Human Non-Syndromic Infertility.

Okutman O et al.

Genes, 2021

Whole-exome sequencing identified a novel mutation of AURKC in a Chinese family with macrozoospermia.

Hua J et al.

Journal of Assisted Reproduction and Genetics, 2019

[Genetic aspects of male infertility: From bench to clinic].

Ben Rhouma M et al.

Gynecologie, Obstetrique, Fertilite & Senologie, 2019

Genetic evaluation of patients with non-syndromic male infertility.

Okutman O et al.

Journal of Assisted Reproduction and Genetics, 2018

Characterization of macrozoospermia-associated AURKC mutations in a mammalian meiotic system.

Fellmeth JE et al.

Human Molecular Genetics, 2016

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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."