Datasets-Based < em > IMPDH1 < /em > Revisited: Heterozygous Missense Variants for Dominant Retinitis Pigmentosa While Truncation Variants Are Likely Non-Pathogenic

CONCLUSIONS: Our data together with comprehensive analysis of existing datasets suggest that causative variants of IMPDH1 are usually missense and mostly clustered in exons 8-10. Conversely, most missense variants outside this region and truncation variants should be interpreted with great care in clinical gene test.PMID:38604988 | DOI:10.1080/02713683.2024.2336158

Source: Current Eye Research - April 11, 2024 Category: Opthalmology Authors: Junwen Wang Yingwei Wang Yi Jiang Shiqiang Li Xiaoyun Jia Xueshan Xiao Wenmin Sun Panfeng Wang Qingjiong Zhang Source Type: research