Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HADHB

Variant:p.K254_Q256del3

Back to variants list

HADHB

NM_000183.3:p.K254_Q256del3

hg38:chr2:26279261 AAGAAGGCAC>A

Associated Papers

Analysis of the clinical phenotype and genotype features of 5 cases of beta-ketothiolase deficiency.

Jin JL et al.

Bmc Pediatrics, 2026

41639795 (PubMed )

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."