Varaico: Literature-Extracted Genetic Variants

Gene:PTS
Variant:p.Q13insFs
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PTS

NM_000317.3:p.Q13insFs

Associated Papers

Hyperphenylalaninemias genotyping: Results of over 60 years of history in Lombardy, Italy.

Rovelli V et al.

Endocrinology, Diabetes & Metabolism, 2023

Retrospective analysis of 19 patients with 6-Pyruvoyl Tetrahydropterin Synthase Deficiency: Prolactin levels inversely correlate with growth.

Manzoni F et al.

Molecular Genetics and Metabolism, 2020

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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."