Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.P281Splc
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PAH

NM_000277.3:p.P281Splc

Associated Papers

High-Resolution Haplotyping of the PAH Gene Enables Early Gestation Noninvasive Prenatal Diagnosis of Phenylketonuria and Evolution Analysis of Recurrent Pathogenic Variations.

Zhu J et al.

Prenatal Diagnosis, 2024

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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."