Varaico: Literature-Extracted Genetic Variants

Gene:UPF3B
Variant:p.R374H
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UPF3B

NM_080632.3:p.R374H

Associated Papers

Gene Variants Involved in Nonsense-Mediated mRNA Decay Suggest a Role in Autism Spectrum Disorder.

Marques AR et al.

Biomedicines, 2022

35327467 (PubMed )
Supplement: biomedicines-10-00665-s001.zip › Supplementary_tables.xlsx › Suppl_Table_S3

Exomes of Ductal Luminal Breast Cancer Patients from Southwest Colombia: Gene Mutational Profile and Related Expression Alterations.

Cortes-Urrea C et al.

Biomolecules, 2020

32365829 (PubMed )
Supplement: biomolecules-10-00698-s001.zip › Article-to-BIOMOLECULES_R1_v4Apr2020 › CortesUrreaetal_R1_Supp_Table_S2_339SNPs.xlsx › Tab_S2_339_SNPs_440_alterations

An uncommon clinical presentation of relapsing dilated cardiomyopathy with identification of sequence variations in MYNPC3, KCNH2 and mitochondrial tRNA cysteine.

Guillen Sacoto MJ et al.

Molecular Genetics and Metabolism Reports, 2015

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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."