Varaico: Literature-Extracted Genetic Variants

Gene:DNAAF2
Variant:p.Y52*
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DNAAF2

NM_018139.3:p.Y52*

Associated Papers

Clinical features and genetic spectrum of children with primary ciliary dyskinesia in central China: a referral center retrospective analysis.

Zhang X et al.

Frontiers in Pharmacology, 2025

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

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

A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.

Zheng J et al.

Molecular Genetics & Genomic Medicine, 2019

31165590 (PubMed )
Supplement: MGG3-7-e00748-s004.xlsx › Variants_information
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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."