Varaico: Literature-Extracted Genetic Variants

Gene:MAN2B1
Variant:p.E563*
Back to variants list

MAN2B1

NM_000528.4:p.E563*

Associated Papers

Carrier frequency and incidence of alpha-mannosidosis: population database-based study-focus on the East Asian and Korean population.

Park JE et al.

Frontiers in Genetics, 2023

A multi-species comparative structural bioinformatics analysis of inherited mutations in alpha-D-mannosidase reveals strong genotype-phenotype correlation.

Khan JM et al.

Bmc Genomics, 2009

Early onset alpha-mannosidosis with slow progression in three Hispanic males.

Lyons MJ et al.

Developmental Medicine and Child Neurology, 2007

Spectrum of mutations in alpha-mannosidosis.

Berg T et al.

American Journal of Human Genetics, 1999

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."