The single nucleotide variant at c.662A > G in human RRM2B is a loss ‐of‐function mutation

ConclusionIn conclusion, the functional assay in this study provided the direct evidence proving that the N221S variation is a loss ‐of‐function mutation and plausibly related to the pathogenic developmental defects found in the infants of previous clinical reports.

Source: Molecular Genetics & Genomic Medicine - September 14, 2020 Category: Genetics & Stem Cells Authors: Yen ‐Tzu Tseng, Shang‐Wei Li, Wei‐Chun HuangFu, Yun Yen, I‐Hsuan Liu Tags: ORIGINAL ARTICLE Source Type: research