GeneticsbioRxivPreprint
Comprehensive Mapping of SGCA Variant Effects Reveals Domain-Specific Constraints Relevant to Sarcoglycanopathies
Shushu Huang, Kenneth K.H. Ng, Yanyu Lu…·Monkol Lek
The paper systematically evaluates SGCA variant effects using saturation mutagenesis to distinguish functional and non-functional variants, revealing domain-specific constraints in sarcoglycanopathies.
DOI 10.64898/2026.07.22.740214