Varaico: Literature-Extracted Genetic Variants

Gene:DNAAF11
Variant:p.S27delFs
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DNAAF11

NM_012472.6:p.S27delFs

Associated Papers

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

Shi S et al.

Andrology, 2025

Characterization of pathogenic genetic variants in Russian patients with primary ciliary dyskinesia using gene panel sequencing and transcript analysis.

Zlotina A et al.

Orphanet Journal of Rare Diseases, 2024

Analyses of 1236 genotyped primary ciliary dyskinesia individuals identify regional clusters of distinct DNA variants and significant genotype-phenotype correlations.

Raidt J et al.

The European Respiratory Journal, 2024

38871375 (PubMed )
Supplement: ERJ-01769-2023.Table_E2.xlsx › AlleleFrequenciesgnomAD_22.03.2

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."