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RARe SOURCE

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tursynay edited this page Dec 13, 2023 · 3 revisions

Homepage Link: https://raresource.nih.gov/

Description: RARe-SOURCE™ is an integrated bioinformatics resource to address the challenges in rare disease research. It includes details on rare diseases with genetic etiology and their associated genes.

Example record: SLC6A8 is associated with X-linked creatine transporter deficiency

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Knowledge Providers (KP)

Autonomous Relay Agents (ARA)

Autonomous Relay System (ARS)

Standards and Reference Implementation (SRI)

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