Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ECHS1

Variant:p.L52_L58del0

Back to variants list

ECHS1

NM_004092.4:p.L52_L58del0

hg38:chr10:133370672 GAGGGCCTTGGGGCGGTTC>G

Associated Papers

Strategic validation of variants of uncertain significance in ECHS1 genetic testing.

Kishita Y et al.

Journal of Medical Genetics, 2023

37055166 (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."