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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PRORP

Variant:p.I292T

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PRORP

NM_014672.4:p.I292T

hg38:chr14:35124120 T>C

Associated Papers

Newborn screening algorithm distinguishing potential symptomatic isovaleric acidemia from asymptomatic newborns.

Rock R et al.

Journal of Inherited Metabolic Disease, 2025

39318119 (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."