Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MCEE

Variant:p.L145L

Back to variants list

MCEE

NM_032601.4:p.L145L

hg38:chr2:71110068 G>A

Associated Papers

Very long-term outcomes in 23 patients with cblA type methylmalonic acidemia.

Marelli C et al.

Journal of Inherited Metabolic Disease, 2022

35618652 (PubMed )

Delineating the clinical spectrum of isolated methylmalonic acidurias: cblA and mut.

Hörster F et al.

Journal of Inherited Metabolic Disease, 2021

32754920 (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."