Varaico: Literature-Extracted Genetic Variants

Gene:BCKDHA
Variant:p.A328T
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BCKDHA

NM_000709.4:p.A328T

Associated Papers

Spectrum of genetic variants associated with maple syrup urine disease in the Middle East, North Africa, and Türkiye (MENAT): a systematic review.

Younes S et al.

Bmc Medical Genomics, 2025

ConVarT: a search engine for matching human genetic variants with variants from non-human species.

Pir MS et al.

Nucleic Acids Research, 2022

34718716 (PubMed )
Supplement: gkab939_supplemental_files.zip › Table_S6.xls › Sheet1

Description of the mutations in 15 subjects with variant forms of maple syrup urine disease.

Flaschker N et al.

Journal of Inherited Metabolic Disease, 2007

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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."