Varaico: Literature-Extracted Genetic Variants

Gene:DNAAF11
Variant:p.S22fs
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DNAAF11

NM_012472.6:p.S22fs

Associated Papers

Primary Ciliary Dyskinesia Caused by a Heterozygous Large Deletion in DNAAF11 Accompanied by a Hemizygous Nonsense Variant: A Case Report from Japan.

Ito M et al.

Internal Medicine (tokyo, Japan), 2025

A novel homozygous LRRC6 mutation causes male infertility with asthenozoospermia and primary ciliary dyskinesia in humans.

Shi S et al.

Andrology, 2025

Identification of novel biallelic LRRC6 variants in male Chinese patients with primary ciliary dyskinesia and infertility.

Li Y et al.

Journal of Assisted Reproduction and Genetics, 2023

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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."