Varaico: Literature-Extracted Genetic Variants

Gene:BCKDHB
Variant:p.S184fs
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BCKDHB

NM_183050.4:p.S184fs

Associated Papers

Whole-exome sequencing as the first-tier test for patients in neonatal intensive care unit: a Chinese single-center study.

Zhang R et al.

Bmc Pediatrics, 2024

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
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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."