by Jessica Lao | Nov 19, 2018 | PMM2-CDG |
This is a continuation of a previous post, which covered Figures 1 – 4 of Perlara’s preprint on bioRxiv, describing our work in modeling PMM2 patient alleles. This work is currently under review at the Genetics Society of America’s peer-reviewed...
by Jessica Lao | Nov 19, 2018 | PMM2-CDG |
Last September, we submitted Perlara’s second preprint to bioRxiv describing our yeast models of PMM2 deficiency. This work is currently under review at the Genetics Society of America’s peer-reviewed journal G3. Below is the description of the figures from the...
by Ethan Perlstein | Sep 20, 2018 | PMM2-CDG |
Last week, we posted a preprint describing new yeast models of Phosphomannomutase 2 Deficiency, or PMM2-CDG, the most common congenital disorder of glycosylation in the world. This PMM2 model preprint is our second preprint on bioRxiv which, for the uninitiated, is...
by Ethan Perlstein | Nov 24, 2016 | Perlara science |
Two weeks ago we posted Perlara’s first preprint to bioRxiv, along with all the raw data on GitHub: Predicting the phenotype of Mendelian disease missense mutations using amino acid conservation and … https://t.co/PWBuYakkMI #bioRxiv — bioRxiv...
