Varaico: Literature-Extracted Genetic Variants

Gene:ACTL7A
Variant:p.L343V
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ACTL7A

NM_006687.4:p.L343V

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_1

Genomic analysis of a Palestinian family with inherited cancer syndrome: a next-generation sequencing study.

Fares E et al.

Frontiers in Genetics, 2023

38028607 (PubMed )
Supplement: Table1.XLSX › Sheet1

Genome-wide association studies of smooth pursuit and antisaccade eye movements in psychotic disorders: findings from the B-SNIP study.

Lencer R et al.

Translational Psychiatry, 2017

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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."