Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MMUT

Variant:p.K444_L445Splc

Back to variants list

MMUT

NM_000255.4:p.K444_L445Splc

hg38:chr6:49451461 C>T

Associated Papers

Combining newborn metabolic and genetic screening for neonatal intrahepatic cholestasis caused by citrin deficiency.

Lin Y et al.

Journal of Inherited Metabolic Disease, 2020

31845334 (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."