Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.L369V
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PAH

NM_000277.3:p.L369V

Associated Papers

Expanding preconception carrier screening for the Jewish population using high throughput microfluidics technology and next generation sequencing.

Gal M et al.

Bmc Medical Genomics, 2016

27175728 (PubMed )
Supplement: 12920_2016_184_MOESM1_ESM.xls › S1

A mutation analysis of the phenylalanine hydroxylase (PAH) gene in the Israeli population.

Bercovich D et al.

Annals of Human Genetics, 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."