Varaico: Literature-Extracted Genetic Variants

Gene:DBT
Variant:p.Q378*
Back to variants list

DBT

NM_001918.5:p.Q378*

Associated Papers

Newborn screening of maple syrup urine disease and the effect of early diagnosis.

Chen T et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2023

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

Case report: maple syrup urine disease with a novel DBT gene mutation.

Feng W et al.

Bmc Pediatrics, 2019

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."