Varaico: Literature-Extracted Genetic Variants

Gene:PCBD1
Variant:p.M1R
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PCBD1

NM_000281.4:p.M1R

Associated Papers

6-Pyruvoyltetrahydropterin Synthase Deficiency: Review and Report of 28 Arab Subjects.

Almannai M et al.

Pediatric Neurology, 2019

Phenylketonuria and hyperphenylalaninemia in eastern Germany: a characteristic molecular profile and 15 novel mutations.

Hennermann JB et al.

Human Mutation, 2000

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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."