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230800.1
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Subject Details
Country
Palestine
HPO Terms
Thrombocytopenia; Splenomegaly; Ichthyosis; Hoarse voice;
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Sex
Male
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_000157.3:c.854T>C
2
Gaucher Disease, Type I
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References
Al-Jasmi et al. 2013
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