Varaico: Literature-Extracted Genetic Variants

Gene:PACS1
Variant:p.R525K
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PACS1

NM_018026.4:p.R525K

Associated Papers

Genetic characterization of Schuurs-Hoeijmakers syndrome in a moroccan individual with heterozygote PACS1 mutation.

Abbassi M et al.

Molecular Biology Reports, 2023

Molecular Basis of the Schuurs-Hoeijmakers Syndrome: What We Know about the Gene and the PACS-1 Protein and Novel Therapeutic Approaches.

Arnedo M et al.

International Journal of Molecular Sciences, 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."