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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PAH

Variant:p.A403D

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PAH

NM_000277.3:p.A403D

hg38:chr12:102840507 G>T

Associated Papers

Neurological and imaging phenotypes of adults with untreated phenylketonuria: new cases and literature review.

Wang MW et al.

Journal of Neurology, 2023

37162580 (PubMed )

The genetic and phenotypic spectra of adult genetic leukoencephalopathies in a cohort of 309 patients.

Wu C et al.

Brain : a Journal of Neurology, 2023

36380532 (PubMed )

Supplement: awac426_supplementary_data.pdf

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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."