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Presumed COL4A3/COL4A4 Missense/Synonymous Variants Induce Aberrant Splicing

21 Mar 2022

Abstract excerpt

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 synonymous variants detected by next-generation sequencing to provide evidence for diagnosis and genetic counselling. Methods Patients' clinical findings and...

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PMID: 35386907
DOI: 10.3389/fmed.2022.838983

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