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248600.2.1
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Subject Details
Country
United Arab Emirates
HPO Terms
Psychomotor retardation; Feeding difficulties
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Sex
Unknown
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_001918.4:c.1281+1G>T
2
Maple Syrup Urine Disease
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References
Al-Shamsi et al. 2014
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