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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PAH

Variant:p.V118Splc

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PAH

NM_001354304.2:p.V118Splc

hg38:chr12:102894730 C>A

Associated Papers

Maternal phenylketonuria in Turkey: outcomes of 71 pregnancies and issues in management.

Yıldız Y et al.

European Journal of Pediatrics, 2019

31053953 (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."