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260400.1
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Subject Details
Country
Saudi Arabia
HPO Terms
Global developmental delay; Microcephaly
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Sex
Female
Parental Consanguinity
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_016038.4:c.258+2T>C
2
NA
Shwachman-Diamond Syndrome 1
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References
Maddirevula et al. 2018
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