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Datasets-Based IMPDH1 Revisited: Heterozygous Missense Variants for Dominant Retinitis Pigmentosa While Truncation Variants Are Likely Non-Pathogenic.

Junwen WangYingwei WangYi JiangShiqiang LiXiaoyun JiaXueshan XiaoWenmin SunPanfeng WangQingjiong Zhang
Published in: Current eye research (2024)
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.
Keyphrases
  • copy number
  • intellectual disability
  • genome wide
  • palliative care
  • dna methylation
  • gene expression
  • early onset
  • rna seq
  • transcription factor
  • single cell