For the complete documentation index, see llms.txt.
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Database of published gene mutations causing human inherited disease
Important Notes
Register with your university or hospital email — personal addresses (Gmail, Yahoo, Hotmail) are rejected. Your password is emailed to the institutional address you provide.
The free public version releases mutation data 3 years after it's added to the paid Professional version — fine for study and most research, not for the very latest clinical variants.
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