Robuta

Sponsor of the Day: Jerkmate
https://insight.jci.org/articles/view/194681 JCI Insight - Splicing variants in MYRF cause partial loss of function in the retinal pigment... jci insightsplicingvariantsmyrfcause https://www.ncbi.nlm.nih.gov/books/NBK586169/ MYRF-Related Cardiac Urogenital Syndrome - GeneReviews® - NCBI Bookshelf MYRF-related cardiac urogenital syndrome (MYRF-CUGS) is primarily characterized by anomalies of the internal and external genitalia, congenital heart defects,... ncbi bookshelfmyrfrelatedcardiacurogenital https://pubmed.ncbi.nlm.nih.gov/31048900/ Variants in myelin regulatory factor (MYRF) cause autosomal dominant and syndromic nanophthalmos in... Nanophthalmos is a rare, potentially devastating eye condition characterized by small eyes with relatively normal anatomy, a high hyperopic refractive error,... autosomal dominantvariantsmyelinregulatoryfactor