Varaico: Literature-Extracted Genetic Variants

Gene:PTS
Variant:p.A111S
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PTS

NM_000317.3:p.A111S

Associated Papers

Genotypic spectrum underlying tetrahydrobiopterin metabolism defects: Experience in a single Mexican reference center.

Vela-Amieva M et al.

Frontiers in Genetics, 2022

Mutational spectrum of PTS gene and in silico pathological assessment of a novel variant in Mexico.

Fernández-Lainez C et al.

Brain & Development, 2018

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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."