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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PRDM12

Variant:p.R168H

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PRDM12

NM_021619.3:p.R168H

hg38:chr9:130668246 G>A

Associated Papers

Expanding the Genotypic Spectrum of Congenital Sensory and Autonomic Neuropathies Using Whole-Exome Sequencing.

Palma JA et al.

Neurology. Genetics, 2021

33884296 (PubMed )

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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."