Varaico: Literature-Extracted Genetic Variants

Gene:DNAH8
Variant:p.A2391S
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DNAH8

NM_001206927.2:p.A2391S

Associated Papers

A synergetic effect of BARD1 mutations on tumorigenesis.

Li W et al.

Nature Communications, 2021

33623049 (PubMed )
Supplement: 41467_2021_21519_MOESM5_ESM.xlsx › sheet1

Identification of a frame shift mutation in the CCDC151 gene in a Han-Chinese family with Kartagener syndrome.

Deng S et al.

Bioscience Reports, 2020

32490514 (PubMed )
Supplement: BSR-2019-2510_supp.xlsx › Sheet1

Identification of Pathogenic Mutations and Investigation of the NOTCH Pathway Activation in Kartagener Syndrome.

Yue Y et al.

Frontiers in Genetics, 2019

31507630 (PubMed )
Supplement: Table_1.xlsx › Table_S3
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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."