Varaico: Literature-Extracted Genetic Variants

Gene:PPP1R12A
Variant:p.S472*
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PPP1R12A

NM_002480.3:p.S472*

Associated Papers

Intestinal Atresia in PPP1R12A -Related Urogenital and Brain Malformation Syndrome.

Gomes A et al.

American Journal of Medical Genetics. Part A, 2025

PPP1R12A mutation leads to different genders of twinning: a case report and literature review.

Tian H et al.

Translational Pediatrics, 2025

The role of serine/threonine phosphatases in human development: Evidence from congenital disorders.

Vaneynde P et al.

Frontiers in Cell and Developmental Biology, 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."