Varaico: Literature-Extracted Genetic Variants

Gene:MAN2B1
Variant:p.G255Splc
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MAN2B1

NM_000528.4:p.G255Splc

Associated Papers

Background splicing as a predictor of aberrant splicing in genetic disease.

Alexieva D et al.

Rna Biology, 2022

35188075 (PubMed )
Supplement: KRNB_A_2024031_SM7960.zip › Supplementary_information › Table_S2_css.xlsx › DBASS3_index

Identification of 83 novel alpha-mannosidosis-associated sequence variants: functional analysis of MAN2B1 missense mutations.

Riise Stensland HM et al.

Human Mutation, 2012

Genome-wide prediction of splice-modifying SNPs in human genes using a new analysis pipeline called AASsites.

Faber K et al.

Bmc Bioinformatics, 2011

21992029 (PubMed )
Supplement: 1471-2105-12-S4-S2-S1.pdf

Spectrum of mutations in alpha-mannosidosis.

Berg T et al.

American Journal of Human Genetics, 1999

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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."