Systemic Genotype-Phenotype Analysis of MYOC Variants Based on Exome Sequencing and Literature Review

Conclusions: Most MYOC variants contributing to adPOAG could be characterized as rare missense variants located in OLF-domain and predicted to be damaging through multiple tools. The effect of other variants, especially for truncation variants (except for p.Q368∗) need further clarification.
Source: Asia-Pacific Journal of Ophthalmology - Category: Opthalmology Tags: Original Study Source Type: research