An automatic classification tool for PVS1 interpretation of null variants
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Updated
Mar 4, 2024 - Python
An automatic classification tool for PVS1 interpretation of null variants
My eventual digital home.
Guida interattiva al counseling prenatale per la sindrome di Klinefelter (47,XXY), basata su evidenze scientifiche. Single-page HTML con selezione interattiva dello scenario clinico.
Probably Genetic — independent third-party profile of a public API surface, by API Evangelist. Probably Genetic is a healthcare company focused on rare disease diagnosis through genetic testing. It offers free targeted genetic testing programs for specific rare conditions (including alpha-mannosidosis, cerebrotendinous xanthomatosis, GRN-FTD, and S
Research tool for exploring carrier frequencies and recurrence risks for autosomal recessive conditions using gnomAD population data. For research use only.
Genome Medical — independent third-party profile of a public API surface, by API Evangelist. Genome Medical is a telehealth-enabled genetic services provider offering expert genetic counseling, test selection and ordering support, results interpretation, and clinical trial matching for individuals with rare and hereditary conditions.
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