Varaico: Literature-Extracted Genetic Variants

Gene:DNAAF1
Variant:p.R488*
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DNAAF1

NM_178452.6:p.R488*

Associated Papers

Clinical Manifestations and Genotype of Primary Ciliary Dyskinesia Diagnosed in Korea: Multicenter Study.

Kim M et al.

Allergy, Asthma & Immunology Research, 2023

Diagnostic exome-based preconception carrier testing in consanguineous couples: results from the first 100 couples in clinical practice.

Sallevelt SCEH et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

33742171 (PubMed )
Supplement: 41436_2021_1116_MOESM2_ESM.pdf

Mutations in LRRC50 predispose zebrafish and humans to seminomas.

Basten SG et al.

Plos Genetics, 2013

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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."