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105400.G.1
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Subject Details
Country
Lebanon
HPO Terms
Skeletal muscle atrophy
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Sex
Unknown
Family History
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_000454.4:c.352C>G
8
Amyotrophic Lateral Sclerosis 1
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Remarks
8 patients from 6 families. Clinical features not described.
References
Megarbane et al. 2022
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