Varaico: Literature-Extracted Genetic Variants

Gene:BCKDHB
Variant:p.I93_V103del11
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BCKDHB

NM_183050.4:p.I93_V103del11

Associated Papers

Chinese genetic variation database of inborn errors of metabolism: a systematic review of published variants in 13 genes.

Guo Y et al.

Orphanet Journal of Rare Diseases, 2023

37308883 (PubMed )
Supplement: 13023_2023_2726_MOESM1_ESM.xlsx › Table_S1

Rapid Targeted Sequencing Using Dried Blood Spot Samples for Patients With Suspected Actionable Genetic Diseases.

Kim MJ et al.

Annals of Laboratory Medicine, 2023

36544340 (PubMed )
Supplement: alm-43-3-280-supple.xlsx › Table_S2
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