460 followers
@theFourier2k: High throughput functional assays can help interpretation of rare variants – describes this approach for FKRP (their recent pre-print is here https://t.co/3haPgZuJWT) #WMS2023
78 followers
I have identified several harmless innocent mistakes in the v1 version of our manuscript and have already fixed them in my current draft. I will fix those issues in our next releasing. Please let me know if you see any issue here! 😀 https://t.co/cAkDA…
4,824 followers
Using Saturation Mutagenesis-Reinforced Functional Assays (SMuRF) to improve the variant interpretation for alpha-dystroglycan ... https://t.co/IL9dQJhziz #biorxiv_genetic
140,250 followers
Using Saturation Mutagenesis-Reinforced Functional Assays (SMuRF) to improve the variant interpretation for alpha-dystroglycan glycosylation enzymes https://t.co/1UqapaeZO3 #bioRxiv