Varaico: Literature-Extracted Genetic Variants

Gene:PACS1
Variant:p.S252F
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PACS1

NM_018026.4:p.S252F

Associated Papers

Molecular Genetic Architecture of Morbid Obesity in Russian Children.

Minniakhmetov IR et al.

Biomedicines, 2025

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

Abbassi M et al.

Molecular Biology Reports, 2023

Do PACS1 variants impeding adaptor protein binding predispose to syndromic intellectual disability?

Moller-Hansen A et al.

American Journal of Medical Genetics. Part A, 2023

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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."