Varaico: Literature-Extracted Genetic Variants

Gene:BTD
Variant:p.G444R
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BTD

NM_001370658.1:p.G444R

Associated Papers

Frequency of biotinidase gene variants and incidence of biotinidase deficiency in the Newborn Screening Program in Minas Gerais, Brazil.

Carvalho NO et al.

Journal of Medical Screening, 2020

Enzymatic diagnosis of homocystinuria by determination of cystathionine-ß-synthase activity in plasma using LC-MS/MS.

Alcaide P et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2015

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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."