Varaico: Literature-Extracted Genetic Variants

Gene:DNAAF2
Variant:p.S450I
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DNAAF2

NM_018139.3:p.S450I

Associated Papers

Pathogenic variants identified using whole-exome sequencing in Chinese patients with primary ciliary dyskinesia.

Ye Y et al.

American Journal of Medical Genetics. Part A, 2022

Novel NOG (p.P42S) mutation causes proximal symphalangism in a four-generation Chinese family.

Sha Y et al.

Bmc Medical Genetics, 2019

31370824 (PubMed )
Supplement: 12881_2019_864_MOESM2_ESM.xlsx › Sheet1
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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."