(Q55052144)
Statements
A novel missense mutation in SCYL1BP1 produces geroderma osteodysplastica phenotype indistinguishable from that caused by nullimorphic mutations. (English)
1 reference
Fowzan S Alkuraya
1 reference
Mohammed Al-Dosari
1 reference
1 October 2009
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149A
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10
1 reference
2093-2098
1 reference