Varaico: Literature-Extracted Genetic Variants

Gene:BCKDHA
Variant:p.S36_H37Splc
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BCKDHA

NM_000709.4:p.S36_H37Splc

Associated Papers

Clinical Profiles, Genetic Variants, and Neurodevelopmental Outcomes Following Liver Transplantation in Maple Syrup Urine Disease: A Study From Palestine.

Khalaf-Nazzal R et al.

Jimd Reports, 2026

Future of Dutch NGS-Based Newborn Screening: Exploring the Technical Possibilities and Assessment of a Variant Classification Strategy.

Kiewiet G et al.

International Journal of Neonatal Screening, 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."