Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.R111Q
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PAH

NM_000277.3:p.R111Q

Associated Papers

Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.

Mao X et al.

Medicine, 2024

39969324 (PubMed )
Supplement: medi-103-e41064-s001.xlsx › S3

Identification of phenylketonuria patient genotypes using single-gene full-length sequencing.

Gao J et al.

Human Genomics, 2022

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."