Varaico: Literature-Extracted Genetic Variants

Gene:NME8
Variant:p.V90_N91Splc
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NME8

NM_016616.5:p.V90_N91Splc

Associated Papers

Expanding the phenotypic spectrum associated with CFAP43 mutations: a case report of familial male infertility with respiratory manifestations.

Awad F et al.

Frontiers in Reproductive Health, 2025

41341611 (PubMed )
Supplement: Datasheet1.xlsx › Patient_2

A Study on the Genetics of Primary Ciliary Dyskinesia.

Alsamri MT et al.

Journal of Clinical Medicine, 2021

Using high-resolution variant frequencies to empower clinical genome interpretation.

Whiffin N et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

Genetic basis of human left-right asymmetry disorders.

Deng H et al.

Expert Reviews in Molecular Medicine, 2015

The role of molecular genetic analysis in the diagnosis of primary ciliary dyskinesia.

Kim RH et al.

Annals of the American Thoracic Society, 2014

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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."