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Published in 2021 at "Biomedicines"
DOI: 10.3390/biomedicines9101390
Abstract: An insertion or deletion of a nucleotide (nt) in the penultimate or the last exon can result in a frameshift and premature termination codon (PTC), giving rise to an unstable protein variant, showing a dominant…
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Keywords:
frameshift;
last exon;
sciacca;
sciacca cod109 ... See more keywords