Varaico: Literature-Extracted Genetic Variants

Gene:ARPC4
Variant:p.R158C
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ARPC4

NM_005718.5:p.R158C

Associated Papers

A novel variant of ARPC4-related neurodevelopmental disorder.

Kuroda Y et al.

American Journal of Medical Genetics. Part A, 2023

A recurrent, de novo pathogenic variant in ARPC4 disrupts actin filament formation and causes microcephaly and speech delay.

Laboy Cintron D et al.

Hgg Advances, 2022

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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."