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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PTPRH

Variant:p.T274M

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PTPRH

NM_002842.5:p.T274M

hg38:chr19:55203847 G>A

Associated Papers

Molecular genetics of metachromatic leukodystrophy.

Gieselmann V et al.

Human Mutation, 1994

7866401 (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."