Varaico: Literature-Extracted Genetic Variants

Gene:BCKDHB
Variant:p.L295delFs
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BCKDHB

NM_183050.4:p.L295delFs

Associated Papers

Maple syrup urine disease: Clinical outcomes, metabolic control, and genotypes in a screened population after four decades of newborn bloodspot screening in the Republic of Ireland.

O'Reilly D et al.

Journal of Inherited Metabolic Disease, 2021

Genetic ancestry analysis on >93,000 individuals undergoing expanded carrier screening reveals limitations of ethnicity-based medical guidelines.

Kaseniit KE et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

32595206 (PubMed )
Supplement: 41436_2020_869_MOESM2_ESM.xlsx › BCKDHB

Integrated analysis of metabolomic profiling and exome data supplements sequence variant interpretation, classification, and diagnosis.

Alaimo JT et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

32439973 (PubMed )
Supplement: NIHMS1603460-supplement-Supplemental_Data.xlsx › Supplementary_Table_2
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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."