Fernandosr85/

adaption-shoc2-ns-lah-variant-reports

This dataset is a remastered version prepared using Adaption's Adaptive Data platform.

This dataset contains structured research-level assessments of SHOC2 missense variants associated with Noonan Syndrome with Loose Anagen Hair (NS-LAH). Each entry provides a detailed interpretation including computational scores (CADD, AlphaMissense), population frequency, LRR domain context, and SMP complex proximity. The reports preserve source-derived Tier… See the full description on the dataset page: https://huggingface.co/datasets/Fernandosr85/adaption-shoc2-ns-lah-variant-reports.