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613717.1
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Subject Details
Country
Saudi Arabia
HPO Terms
Microcephaly; Micrognathia; Abnormal facial shape
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Sex
Male
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_015972.4:c.388G>T
1
Treacher Collins Syndrome 2
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References
Monies et al. 2017
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