Assessment of small in-frame indels and c-terminal nonsense variants of brca1 using a validated functional assay

HIGHLIGHTS

• who: Thales C. Nepomuceno from the Research Institute Duke University have published the article: Assessment of small in-frame indels and C-terminal nonsense variants of BRCA1 using a validated functional assay, in the Journal: Scientific Reports Scientific Reports

SUMMARY

Variants were divided into three groups based on the protein outcome: in-frame insertions and deletions (multiple-nucleotide changes) that result in missense substitutions; small in-frame deletions (SD) that result in the deletion of an amino_acid residue; and_(3) small in-frame insertions (SI) that result in amino_acid residue insertions. Small in . . .

 



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