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231000.1
Home
Subject Details
Country
Lebanon
HPO Terms
Hepatosplenomegaly; Anemia; Glioma
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Sex
Unknown
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_000157.4:c.1504C>T
2
Gaucher Disease, Type III
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References
Jalkh et al. 2019
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