Varaico: Literature-Extracted Genetic Variants

Gene:BTD
Variant:p.C451S
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BTD

NM_001370658.1:p.C451S

Associated Papers

Concordance Between Biochemical and Molecular Diagnosis Obtained by WES in Mexican Patients with Inborn Errors of Intermediary Metabolism: Utility for Therapeutic Management.

Vela-Amieva M et al.

International Journal of Molecular Sciences, 2024

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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."