Varaico: Literature-Extracted Genetic Variants

Gene:BTD
Variant:p.L478insFs
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BTD

NM_001370658.1:p.L478insFs

Associated Papers

Genomic and Structural Investigation of Mutations in Biotinidase (BTD) Gene Deficiency in Greater Middle Eastern Cohort: Insights from Molecular Dynamics Study.

Ibrahim FE et al.

Biomedicines, 2025

41007772 (PubMed )
Supplement: biomedicines-13-02210-s001.zip › biomedicines-3684120_BTD_Table_S1.xlsx › SVs

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

Analysis of clinically relevant variants from ancestrally diverse Asian genomes.

Chan SH et al.

Nature Communications, 2022

36335097 (PubMed )
Supplement: 41467_2022_34116_MOESM4_ESM.zip › NCOMMS-22-14716A_SupplementaryData › NCOMM-22-14716A_SupplementaryData_2.xlsx › SuppData_2
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