Varaico: Literature-Extracted Genetic Variants

Gene:BCKDK
Variant:p.V396I
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BCKDK

NM_005881.4:p.V396I

Associated Papers

Genes and Pathways Implicated in Tetralogy of Fallot Revealed by Ultra-Rare Variant Burden Analysis in 231 Genome Sequences.

Manshaei R et al.

Frontiers in Genetics, 2020

33110418 (PubMed )
Supplement: Data_Sheet_2.zip › SupplementaryTables_FrontiersInGenetics › Supplementary_Table_S13__NOTCH1__BCKDK__DHH_and_KL_missense_variants_details.XLSX › Sheet1
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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."