Varaico: Literature-Extracted Genetic Variants

Gene:PCBD1
Variant:p.E97K
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PCBD1

NM_000281.4:p.E97K

Associated Papers

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

Vela-Amieva M et al.

Frontiers in Genetics, 2022

Recessive mutations in PCBD1 cause a new type of early-onset diabetes.

Simaite D et al.

Diabetes, 2014

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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."