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2 Hits
Search Condition : Filter (MeSH = Microcephaly* / genetics)
Species
Resource
RRC ID
Title
Journal
Published
Link
C.elegans
tm2979
76171
Functional analysis of a novel de novo variant in PPP5C associated with microcephaly, seizures, and developmental delay.
Mol Genet Metab
2022-5-1
Pubmed
Full text
Human and Animal Cells
MC3T3-E1(RCB1126)
73374
Altered sulfation status of FAM20C-dependent chondroitin sulfate is associated with osteosclerotic bone dysplasia.
Nat Commun
2022-12-26
Pubmed
Full text