Varaico: Literature-Extracted Genetic Variants

Gene:PRR12
Variant:p.V746delFs
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PRR12

NM_020719.3:p.V746delFs

Associated Papers

Case Report: Identification of a novel PRR12 variant in a Chinese boy with developmental delay and short stature.

Liu Z et al.

Frontiers in Pediatrics, 2024

38798311 (PubMed )
Supplement: Table1.xlsx › Sheet1

Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities.

Chowdhury F et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

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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."