Varaico: Literature-Extracted Genetic Variants

Gene:PPP1R12A
Variant:p.Y766*
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PPP1R12A

NM_002480.3:p.Y766*

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

Persistent Müllerian duct syndrome associated with genetic defects in the regulatory subunit of myosin phosphatase.

Picard JY et al.

Human Reproduction (oxford, England), 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."