Varaico: Literature-Extracted Genetic Variants

Gene:PRDM12
Variant:p.R168C
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PRDM12

NM_021619.3:p.R168C

Associated Papers

Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies.

Lischka A et al.

Brain : a Journal of Neurology, 2023

37769650 (PubMed )
Supplement: awad328_supplementary_data.zip › brain-2023-00799-File006.xlsx › Tabelle1

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

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."