Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MCF2L

Variant:p.K844_E847del0

Back to variants list

MCF2L

NM_001112732.3:p.K844_E847del0

hg38:chr13:113087388 AAGAAGAGGGAGG>A

Associated Papers

Analysis of the Italian cohort of late-onset Pompe disease (LOPD) patients after 10 and 15 years of therapy with alglucosidase alfa.

Mongini T et al.

Journal of Neurology, 2025

40643754 (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."