Varaico: Literature-Extracted Genetic Variants

Gene:PPP1R12A
Variant:p.R889Splc
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PPP1R12A

NM_002480.3:p.R889Splc

Associated Papers

PPP1R12A Mutation Presenting With Congenital Jejunal Atresia and Short Stature: A Pediatric Endocrinology Case Report.

Saul R et al.

Case Reports in Pediatrics, 2026

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

Tian H et al.

Translational Pediatrics, 2025

Clinical report and genetic analysis of a neonate with genitourinary and/or brain malformation syndrome caused by a non-coding sequence variant of PPP1R12A.

Diao Y et al.

Molecular Genetics & Genomic Medicine, 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."