Presumed COL4A3/COL4A4 Missense/Synonymous Variants Induce Aberrant Splicing
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DOI: 10.3389/fmed.2022.838983
Abstract: Background The incorrect interpretation of missense and synonymous variants can lead to improper molecular diagnosis and subsequent faulty genetic counselling. The aim of this study was to evaluate the pathogenicity of presumed COL4A3/COL4A4 missense and… read more here.
Keywords: missense synonymous; presumed col4a3; col4a4; col4a3 col4a4 ... See more keywords