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614609.2
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Subject Details
Country
Saudi Arabia
HPO Terms
Delayed speech and language development; Intellectual disability
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Sex
Unknown
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_003072.5:c.1289T>C
1
Coffin-Siris Syndrome 4
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Remarks
de novo mutation
References
Monies et al. 2019
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