Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.E360*
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PAH

NM_000277.3:p.E360*

Associated Papers

Should genetic analysis in newborn screening and a heterozygote test for hyperphenylalaninaemia be recommended? An Italian study.

Rottoli A et al.

Journal of Medical Screening, 1999

The maturity-onset diabetes of the young (MODY1) transcription factor HNF4alpha regulates expression of genes required for glucose transport and metabolism.

Stoffel M et al.

Proceedings of the National Academy of Sciences of the United States of America, 1997

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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."