Rare disease variant curation from literature: assessing gaps with creatine transport deficiency in focus

Rare disease variant curation from literature: assessing gaps with creatine transport deficiency in focus

Abstract Background Approximately 4–8% of the world suffers from a rare disease. Rare diseases are often difficult to diagnose, and many do not have approved therapies. Genetic sequencing has the potential to shorten the current diagnostic process, increase mechanistic understanding, and facilitate...

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Bibliographic Details
Main Authors: Erica L. Lyons, Daniel Watson, Mohammad S. Alodadi, Sharie J. Haugabook, Gregory J. Tawa, Fady Hannah-Shmouni, Forbes D. Porter, Jack R. Collins, Elizabeth A. Ottinger, Uma S. Mudunuri
Format: Article
Language:English
Published: BMC 2023-08-01
Series:BMC Genomics
Subjects:
Rare disease
Gene variant
Literature curation
CTD
SLC6A8
Variant database
Online Access:https://doi.org/10.1186/s12864-023-09561-5

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