Varaico: Literature-Extracted Genetic Variants

Gene:DNAAF1
Variant:p.K393R
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DNAAF1

NM_178452.6:p.K393R

Associated Papers

Compound Heterozygous Variants in the Coiled-Coil Domain Containing 40 Gene in a Chinese Family with Primary Ciliary Dyskinesia Cause Extreme Phenotypic Diversity in Cilia Ultrastructure.

Yang L et al.

Frontiers in Genetics, 2018

29456554 (PubMed )
Supplement: Data_Sheet_2.XLSX › Variants_detected

Mutations in LRRC50 predispose zebrafish and humans to seminomas.

Basten SG et al.

Plos Genetics, 2013

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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."