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278250.G.2
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Subject Details
Country
Oman
HPO Terms
Lack of skin elasticity; Delayed cranial suture closure
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Sex
Unknown
Family History
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_012463.4:c.1929del
4
Wrinkly Skin Syndrome
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Remarks
2 members of an Omani family
References
Kornak et al. 2008
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