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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HPSE

Variant:p.L252F

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HPSE

NM_001098540.3:p.L252F

hg38:chr4:83310810 G>A

Associated Papers

Mutation analysis in hyperphenylalaninemia patients from South Italy.

Trunzo R et al.

Clinical Biochemistry, 2013

23792259 (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."