Varaico: Literature-Extracted Genetic Variants

Gene:PC
Variant:p.L90R
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PC

NM_001040716.2:p.L90R

Associated Papers

Novel mutations causing biotinidase deficiency in individuals identified by the newborn screening program in Minas Gerais, Brazil.

Carvalho NO et al.

American Journal of Medical Genetics. Part A, 2019

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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."