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Development of RS1-specific ACMG/AMP variant classification criteria with pilot variant curationNARA Subscribed
Gene-based therapies are being developed for retinal diseases, including RS1- related X-linked retinoschisis. Therefore it is essential to determine which variants are pathogenic and which are benign when enrolling patients. The Clinical Genome Resource (ClinGen) X-Linked Inherited Retinal Diseases (XLRD) Variant Curation Expert Panel (VCEP) brings together clinician scientists, molecular biologists, and geneticists to apply t...
Extreme climatic perturbations are becoming increasingly frequent, with substantial and long‐lasting legacy effects on biodiversity and ecosystems that may be compounded by human pressures such as illegal hunting. It is therefore vital to develop a better understanding of how best to manage and enhance ecosystem recovery. Using 15 years of data (2005–2019) from subtropical China, we investigated how an extreme ice storm event...