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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PROB1

Variant:p.R301G

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PROB1

NM_001161546.2:p.R301G

hg38:chr5:139394181 G>C

Associated Papers

Methylome Profiling in Fabry Disease in Clinical Practice: A Proof of Concept.

Di Risi T et al.

International Journal of Molecular Sciences, 2022

36292965 (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."