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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PAH

Variant:p.Q355_Y356Splc

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PAH

NM_000277.3:p.Q355_Y356Splc

hg38:chr12:102843790 C>G

Associated Papers

Identification of Variants Underlying Phenylalanine Hydroxylase Deficiency in Saudi Arabia.

Balobaid A et al.

Genetic Testing and Molecular Biomarkers, 2023

37257178 (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."