Varaico: Literature-Extracted Genetic Variants

Gene:DBT
Variant:p.L17_I18Splc
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DBT

NM_001918.5:p.L17_I18Splc

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

The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cao Y et al.

Cell Research, 2020

32355288 (PubMed )
Supplement: 41422_2020_322_MOESM14_ESM.xlsx › S7

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

Yang N et al.

Molecular Genetics and Metabolism, 2012

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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."