Varaico: Literature-Extracted Genetic Variants

Gene:DNAAF1
Variant:p.E402V
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DNAAF1

NM_178452.6:p.E402V

Associated Papers

Profiling genetic variants in cardiovascular disease genes among a Heterogeneous cohort of Mendelian conditions patients and electronic health records.

Akawi N et al.

Frontiers in Molecular Biosciences, 2024

39411402 (PubMed )
Supplement: Table1.XLSX › Supplemental_Table_S12

A Study on the Genetics of Primary Ciliary Dyskinesia.

Alsamri MT et al.

Journal of Clinical Medicine, 2021

Whole-Exome Sequencing Identifies Three Candidate Homozygous Variants in a Consanguineous Iranian Family with Autism Spectrum Disorder and Skeletal Problems.

Farajzadeh Valilou S et al.

Molecular Syndromology, 2020

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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."