Varaico: Literature-Extracted Genetic Variants

Gene:DNAAF19
Variant:p.R35P
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DNAAF19

NM_213607.3:p.R35P

Associated Papers

The Palestinian primary ciliary dyskinesia population: first results of the diagnostic and genetic spectrum.

Rumman N et al.

Erj Open Research, 2023

Characterization of CCDC103 expression profiles: further insights in primary ciliary dyskinesia and in human reproduction.

Pereira R et al.

Journal of Assisted Reproduction and Genetics, 2019

Mutation analysis in patients with total sperm immotility.

Pereira R et al.

Journal of Assisted Reproduction and Genetics, 2015

A recurrent homozygous missense mutation in CCDC103 causes asthenoteratozoospermia due to disorganized dynein arms.

Zubair M et al.

Asian Journal of Andrology, 0

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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."