Varaico: Literature-Extracted Genetic Variants

Gene:DBT
Variant:p.N124_D126del0
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DBT

NM_001918.5:p.N124_D126del0

Associated Papers

Genetic analysis by targeted next-generation sequencing and novel variation identification of maple syrup urine disease in Chinese Han population.

Fang X et al.

Scientific Reports, 2021

34556729 (PubMed )
Supplement: 41598_2021_98357_MOESM1_ESM.pdf

Analysis of gene mutations in Chinese patients with maple syrup urine disease.

Yang N et al.

Molecular Genetics and Metabolism, 2012

MRI and clinical features of maple syrup urine disease: preliminary results in 10 cases.

Cheng A et al.

Diagnostic and Interventional Radiology (ankara, Turkey), 0

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