العربية
About Us
News
Fellowships
العربية
Home
About Us
CTGA Database
CTGA Overview
Search Database
Submit to Database
Publications
Research Articles
Genetics Made Easy
Genetic Disorders in the Arab World
Reports
Conferences & Events
News
Gallery
Fellowships
Contact Us
620725.1
Home
Subject Details
Country
Saudi Arabia
HPO Terms
Hypotonia; Muscle weakness; Easy fatigability; Exercise intolerance
Back to search Result
Sex
Female
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_001849.4:c.2422+1G>A
1
Bethlem myopathy 1B
Download Table
References
Monies et al. 2017
© CAGS 2024. All rights reserved.
