Varaico: Literature-Extracted Genetic Variants

Gene:DNAAF2
Variant:p.S8*
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DNAAF2

NM_018139.3:p.S8*

Associated Papers

Clinical and genetic analysis of two patients with primary ciliary dyskinesia caused by a novel variant of DNAAF2.

Dong L et al.

Bmc Pediatrics, 2023

Defects in the cytoplasmic assembly of axonemal dynein arms cause morphological abnormalities and dysmotility in sperm cells leading to male infertility.

Aprea I et al.

Plos Genetics, 2021

Identification of Two Novel DNAAF2 Variants in Two Consanguineous Families with Primary Ciliary Dyskinesia.

Lu C et al.

Pharmacogenomics and Personalized Medicine, 2021

Novel compound heterozygous DNAAF2 mutations cause primary ciliary dyskinesia in a Han Chinese family.

Sun M et al.

Journal of Assisted Reproduction and Genetics, 2020

Genetic basis of human left-right asymmetry disorders.

Deng H et al.

Expert Reviews in Molecular Medicine, 2015

Ktu/PF13 is required for cytoplasmic pre-assembly of axonemal dyneins.

Omran H et al.

Nature, 2008

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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."