Varaico: Literature-Extracted Genetic Variants

Gene:DNAI2
Variant:p.R247Q
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DNAI2

NM_023036.6:p.R247Q

Associated Papers

First report of DNAI2-associated primary ciliary dyskinesia in Libya: A case from a nonconsanguineous marriage.

Fathi Alatrash Z et al.

Respiratory Medicine Case Reports, 2025

IC2 participates in the cooperative activation of outer arm dynein densely attached to microtubules.

Kondo Y et al.

Cell Structure and Function, 2023

Identification of a novel founder variant in DNAI2 cause primary ciliary dyskinesia in five consanguineous families derived from a single tribe descendant of Arabian Peninsula.

Al-Mutairi DA et al.

Frontiers in Genetics, 2022

Immunofluorescence Analysis as a Diagnostic Tool in a Spanish Cohort of Patients with Suspected Primary Ciliary Dyskinesia.

Baz-Redón N et al.

Journal of Clinical Medicine, 2020

33182294 (PubMed )
Supplement: jcm-09-03603-s001.pdf
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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."