Varaico: Literature-Extracted Genetic Variants

Gene:CFAP300
Variant:p.H259R
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CFAP300

NM_032930.3:p.H259R

Associated Papers

A novel homozygous mutation of CFAP300 identified in a Chinese patient with primary ciliary dyskinesia and infertility.

Zhou Z et al.

Asian Journal of Andrology, 2025

Genetics of 67 patients of suspected primary ciliary dyskinesia from India.

Jat KR et al.

Clinical Genetics, 2024

CFAP300 mutation causing primary ciliary dyskinesia in Finland.

Schultz R et al.

Frontiers in Genetics, 2022

CFAP300: Mutations in Slavic Patients with Primary Ciliary Dyskinesia and a Role in Ciliary Dynein Arms Trafficking.

Zietkiewicz E et al.

American Journal of Respiratory Cell and Molecular Biology, 2019

C11orf70 Mutations Disrupting the Intraflagellar Transport-Dependent Assembly of Multiple Axonemal Dyneins Cause Primary Ciliary Dyskinesia.

Fassad MR et al.

American Journal of Human 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."