Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.G344_L347del4
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PAH

NM_000277.3:p.G344_L347del4

Associated Papers

Estimating carrier frequencies of newborn screening disorders using a whole-genome reference panel of 3552 Japanese individuals.

Yamaguchi-Kabata Y et al.

Human Genetics, 2019

Plasma cholesterol in adults with phenylketonuria.

Williams RA et al.

Pathology, 2015

Phenylketonuria: an inborn error of phenylalanine metabolism.

Williams RA et al.

The Clinical Biochemist. Reviews, 2008

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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."