Varaico: Literature-Extracted Genetic Variants

Gene:DNAH5
Variant:p.I1855fs
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DNAH5

NM_001369.3:p.I1855fs

Associated Papers

[Clinical and genetic characteristics of a case of primary ciliary dyskinesia caused by new frameshift mutation of the DNAH5 gene].

Li MY et al.

Zhonghua Nan Ke Xue = National Journal of Andrology, 2024

Topological data analysis reveals genotype-phenotype relationships in primary ciliary dyskinesia.

Shoemark A et al.

The European Respiratory Journal, 2021

Multi-omics characterization of molecular features of gastric cancer correlated with response to neoadjuvant chemotherapy.

Li Z et al.

Science Advances, 2020

32133402 (PubMed )
Supplement: aay4211_Table_S2.xlsx › SomaticMutations

Randomization of Left-right Asymmetry and Congenital Heart Defects: The Role of DNAH5 in Humans and Mice.

Nöthe-Menchen T et al.

Circulation. Genomic and Precision Medicine, 2019

Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.

LaDuca H et al.

Plos One, 2017

28152038 (PubMed )
Supplement: pone.0170843.s003.xlsx › S3_Table
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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."