Varaico: Literature-Extracted Genetic Variants

Gene:BCKDHB
Variant:p.I258F
Back to variants list

BCKDHB

NM_183050.4:p.I258F

Associated Papers

Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European origins.

Carmi S et al.

Nature Communications, 2014

25203624 (PubMed )
Supplement: ncomms5835-s5.xlsx › List_of_all_discovered_variants

Integrative data mining highlights candidate genes for monogenic myopathies.

Abath Neto O et al.

Plos One, 2014

25353622 (PubMed )
Supplement: pone.0110888.s004.xlsx › Table_S4
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."