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600795.1
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Subject Details
Country
Saudi Arabia
HPO Terms
Progressive muscle weakness; Short stature
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Sex
Female
Family History
No
Parental Consanguinity
No
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_014043.4:c.85A>G
1
Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 7
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References
Monies et al. 2017
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