Varaico: Literature-Extracted Genetic Variants

Gene:DNAAF1
Variant:p.R271*
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DNAAF1

NM_178452.6:p.R271*

Associated Papers

Which side are they on? Diagnosing primary ciliary dyskinesias in low- or middle-income countries: A review and case series.

Surdut SP et al.

African Journal of Thoracic and Critical Care Medicine, 2023

Novel dynein axonemal assembly factor 1 mutations identified using whole‑exome sequencing in patients with primary ciliary dyskinesia.

Zhou L et al.

Molecular Medicine Reports, 2020

Genetic basis of human left-right asymmetry disorders.

Deng H et al.

Expert Reviews in Molecular Medicine, 2015

Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects.

Loges NT et al.

American Journal of Human Genetics, 2009

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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."