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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PRPH

Variant:p.S52N

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PRPH

NM_006262.4:p.S52N

hg38:chr12:49295355 G>A

Associated Papers

Giant axonal neuropathy: a multicenter retrospective study with genotypic spectrum expansion.

Echaniz-Laguna A et al.

Neurogenetics, 2020

31655922 (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."