ZRSR2 Mutation Induced Minor Intron Retention Drives MDS and …
https://ashpublications.org/blood/article/136/Supplement%201/10/470256/ZRSR2-Mutation-Induced-Minor-Intron-Retention
WEBNov 5, 2020 · Mutations in the splicing factors SF3B1, SRSF2, and U2AF1 occur as heterozygous, missense mutations and have been shown to confer a change-of-function. In contrast, the X chromosome encoded ZRSR2 is enriched in nonsense/frameshift mutations in males, consistent with loss of function.
DA: 75 PA: 44 MOZ Rank: 20