Varaico: Literature-Extracted Genetic Variants

Gene:PPP1R12A
Variant:p.R504*
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PPP1R12A

NM_002480.3:p.R504*

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

Genetic analysis of pregnancy loss and fetal structural anomalies by whole exome sequencing.

Xiang J et al.

Orphanet Journal of Rare Diseases, 2024

39252126 (PubMed )
Supplement: 13023_2024_3340_MOESM3_ESM.xlsx › Sheet1
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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."