# name
Inheritance of c.628-6G>A GNB5 hypomorphic allele uncovers another challenge in the pathogenic prediction of genomic variants

# metadata.dc.description.abstract[].value
We studied a patient with a severe phenotype carrying two GNB5 variants: c.514delT from the unaffected heterozygous mother and c.628-6G>A from the unaffected homozygous father. Functional genomics studies showed that parents express 50% (nonsense-mediated decay, NMD) of the RNA/protein while the patient does not produce enough protein for normal development.

# metadata.dc.rights[].value
cc by-nc-nd (c) Pijuan, Jordi et al., 2024

# metadata.dc.source[].value
Articles publicats en revistes (Cirurgia i Especialitats Medicoquirúrgiques)

# metadata.dc.title[].value
Inheritance of c.628-6G>A GNB5 hypomorphic allele uncovers another challenge in the pathogenic prediction of genomic variants