transhumanist-already-exists/human-gene-lof-rescue-evidence

Human Biallelic Loss-of-Function and Functional-Rescue Evidence This dataset contains 88 curated human gene records linking three experimentally distinct observations: biallelic human loss of function; a consistent phenotype reported in independent affected families or cohorts; functional rescue in affected humans or patient-derived human cells. Each record therefore connects genotype → recurrent human phenotype → reversal of a disease-relevant defect. This convergent evidence… See the full description on the dataset page: https://huggingface.co/datasets/transhumanist-already-exists/human-gene-lof-rescue-evidence.