Varaico: Literature-Extracted Genetic Variants

Gene:DNAAF2
Variant:p.E158*
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DNAAF2

NM_018139.3:p.E158*

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

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

Lu C et al.

Pharmacogenomics and Personalized Medicine, 2021

Rare variants in SOX17 are associated with pulmonary arterial hypertension with congenital heart disease.

Zhu N et al.

Genome Medicine, 2018

30029678 (PubMed )
Supplement: 13073_2018_566_MOESM2_ESM.xlsx › Sheet1
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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."