Varaico: Literature-Extracted Genetic Variants

Gene:IGF2BP2
Variant:p.R171C
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IGF2BP2

NM_006548.6:p.R171C

Associated Papers

Impact of Gene Modifiers on Cystic Fibrosis Phenotypic Profiles: A Systematic Review.

Ward A et al.

Human Mutation, 2024

WDR45, one gene associated with multiple neurodevelopmental disorders.

Cong Y et al.

Autophagy, 2021

Proinflammatory cytokine gene polymorphisms and susceptibility to Paget's disease of bone: an association study.

Gallone S et al.

Cytokine, 2011

Detection of Exon 8 mutations in sqstm1/p62 gene by mutation-specific restriction enzyme digestion: a sensitive screening for Paget disease of bone.

Gallone S et al.

Panminerva Medica, 2011

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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."