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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HPD

Variant:p.Q108_K109Splc

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HPD

NM_002150.3:p.Q108_K109Splc

hg38:chr12:121854793 C>A

Associated Papers

Tyrosinemia type 1 in Spain: mutational analysis, treatment and long-term outcome.

Couce ML et al.

Pediatrics International : Official Journal of the Japan Pediatric Society, 2011

21752152 (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."