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268400.1
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Subject Details
Country
United Arab Emirates
HPO Terms
Premature birth; Intrauterine growth retardation; Dry skin
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Sex
Unknown
Parental Consanguinity
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_004260.3:c.1000G>T
2
Rothmund-Thomson Syndrome
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References
Al-Shamsi et al. 2016
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