Varaico: Literature-Extracted Genetic Variants

Gene:BCKDHB
Variant:p.S184fs
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BCKDHB

NM_183050.4:p.S184fs

Associated Papers

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

Li L et al.

Frontiers in Genetics, 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

Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology.

Xi Y et al.

Molecular Genetics & Genomic Medicine, 2020

32573981 (PubMed )
Supplement: MGG3-8-e1340-s004.pdf

Silico analysis of a novel mutation c.550delT in a Chinese patient with maple syrup urine disease.

Li W et al.

Clinical Case Reports, 2018

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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."