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277700.1
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Subject Details
Country
Lebanon
HPO Terms
Hypotonia; Aplasia/Hypoplasia involving the nose; Progeroid facial appearance; Microretrognathia; Cutis laxa
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Sex
Unknown
Parental Consanguinity
No
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_000553.5:c.95A>G
1
Werner Syndrome
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References
Jalkh et al. 2019
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