Varaico: Literature-Extracted Genetic Variants

Gene:PPP1R12A
Variant:p.E751delFs
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PPP1R12A

NM_002480.3:p.E751delFs

Associated Papers

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

Gomes A et al.

American Journal of Medical Genetics. Part A, 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."