Varaico: Literature-Extracted Genetic Variants

Gene:PRDM12
Variant:p.E75Splc
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PRDM12

NM_021619.3:p.E75Splc

Associated Papers

Congenital insensitivity to pain associated with PRDM12 mutation: Two case reports and a literature review.

Yu H et al.

Frontiers in Genetics, 2023

PRDM12 Is Transcriptionally Active and Required for Nociceptor Function Throughout Life.

Kokotović T et al.

Frontiers in Molecular Neuroscience, 2021

Hereditary Sensory Polyneuropathy, Pain Insensitivity and Global Developmental Delay due to Novel Mutation in PRDM12 Gene.

Saini AG et al.

Indian Journal of Pediatrics, 2017

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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."