Varaico: Literature-Extracted Genetic Variants

Gene:DNAAF6
Variant:p.I88_N90Fs
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DNAAF6

NM_173494.2:p.I88_N90Fs

Associated Papers

Case Report: Minigene assays reveal a novel DNAAF6 intronic variant as the key etiology for primary ciliary dyskinesia.

Long Y et al.

Frontiers in Genetics, 2025

X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3.

Olcese C et al.

Nature Communications, 2017

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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."