Varaico: Literature-Extracted Genetic Variants

Gene:BCKDHA
Variant:p.L427_L431del0
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BCKDHA

NM_000709.4:p.L427_L431del0

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

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
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