Varaico: Literature-Extracted Genetic Variants

Gene:BCAT2
Variant:p.A385fs
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BCAT2

NM_001190.4:p.A385fs

Associated Papers

Branched-chain amino acid transferase 2 (BCAT2) deficiency: A case series and systematic review.

Filipic M et al.

Molecular Genetics and Metabolism Reports, 2026

Branched-chain amino acid transferase type 2 (BCAT2) deficiency: Report of an eighth case and literature review.

Mondésert E et al.

Molecular Genetics and Metabolism Reports, 2025

Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region.

Martín-Rivada Á et al.

Jimd Reports, 2022

Expanding the genetic and phenotypic spectrum of branched-chain amino acid transferase 2 deficiency.

Knerr I et al.

Journal of Inherited Metabolic Disease, 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."