Varaico: Literature-Extracted Genetic Variants

Gene:ADCY10
Variant:p.N1181S
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ADCY10

NM_018417.6:p.N1181S

Associated Papers

Two novel heterozygous ADCY10 variants identified in Chinese pediatric patients with absorptive hypercalciuria: case report and literature review.

Ge Y et al.

Journal of Genetics, 2024

Use of whole-exome sequencing to identify a novel ADCY10 mutation in a patient with nephrolithiasis.

Wang C et al.

American Journal of Translational Research, 2020

ADCY10 frameshift variant leading to severe recessive asthenozoospermia and segregating with absorptive hypercalciuria.

Akbari A et al.

Human Reproduction (oxford, England), 2019

A comprehensive gene mutation screen in men with asthenozoospermia.

Visser L et al.

Fertility and Sterility, 2011

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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."