Varaico: Literature-Extracted Genetic Variants

Gene:PRDM12
Variant:p.E172D
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PRDM12

NM_021619.3:p.E172D

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

Transcription factor mesenchyme homeobox protein 2 (MEOX2) modulates nociceptor function.

Kokotović T et al.

The Febs Journal, 2022

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

Kokotović T et al.

Frontiers in Molecular Neuroscience, 2021

Oral manifestations, dental management, and a rare homozygous mutation of the PRDM12 gene in a boy with hereditary sensory and autonomic neuropathy type VIII: a case report and review of the literature.

Elhennawy K et al.

Journal of Medical Case Reports, 2017

Transcriptional regulator PRDM12 is essential for human pain perception.

Chen YC et al.

Nature Genetics, 2015

The evolutionarily conserved transcription factor PRDM12 controls sensory neuron development and pain perception.

Nagy V et al.

Cell Cycle (georgetown, Tex.), 2015

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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."