Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.E56_E57Splc
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PAH

NM_000277.3:p.E56_E57Splc

Associated Papers

A Data-Driven Approach to Carrier Screening for Common Recessive Diseases.

Kiseleva AV et al.

Journal of Personalized Medicine, 2020

32971794 (PubMed )
Supplement: jpm-10-00140-s001.pdf

Mutation spectrum of PAH gene in phenylketonuria patients in Northwest China: identification of twenty novel variants.

Yan Y et al.

Metabolic Brain Disease, 2019

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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."