Varaico: Literature-Extracted Genetic Variants

Gene:UPF3B
Variant:p.R229fs
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UPF3B

NM_080632.3:p.R229fs

Associated Papers

Genetic Testing for Global Developmental Delay in Early Childhood.

Zhang J et al.

Jama Network Open, 2024

38837156 (PubMed )
Supplement: jamanetwopen-e2415084-s002.xlsx › eTable_2

Molecular and Clinical Characterization of a Novel Nonsense Variant in Exon 1 of the UPF3B Gene Found in a Large Spanish Basque Family (MRX82).

Tejada MI et al.

Frontiers in Genetics, 2019

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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."