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616038.1
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Subject Details
Country
Lebanon
HPO Terms
Short ribs; Narrow chest; Abnormality of the skeletal system; Talipes equinovarus
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Sex
Male
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_058179.4:c.296C>T
2
Neu-Laxova Syndrome 2
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References
Nair et al. 2018
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