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- NP15947.RAB2MmQDI_YHtHym_D0Ev2B22t7olevx1mDCkxN98OBz0130_assertion type Assertion NP15947.RAB2MmQDI_YHtHym_D0Ev2B22t7olevx1mDCkxN98OBz0130_head.
- NP15947.RAB2MmQDI_YHtHym_D0Ev2B22t7olevx1mDCkxN98OBz0130_assertion description "[We found homozygosity or compound heterozygosity with respect to stop-codon mutations in autosomal recessive spondylocarpotarsal syndrome (SCT, OMIM 272460) and missense mutations in individuals with autosomal dominant Larsen syndrome (OMIM 150250) and the perinatal lethal atelosteogenesis I and III phenotypes (AOI, OMIM 108720; AOIII, OMIM 108721).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP15947.RAB2MmQDI_YHtHym_D0Ev2B22t7olevx1mDCkxN98OBz0130_provenance.
- NP15947.RAB2MmQDI_YHtHym_D0Ev2B22t7olevx1mDCkxN98OBz0130_assertion evidence source_evidence_curated NP15947.RAB2MmQDI_YHtHym_D0Ev2B22t7olevx1mDCkxN98OBz0130_provenance.
- NP15947.RAB2MmQDI_YHtHym_D0Ev2B22t7olevx1mDCkxN98OBz0130_assertion SIO_000772 14991055 NP15947.RAB2MmQDI_YHtHym_D0Ev2B22t7olevx1mDCkxN98OBz0130_provenance.
- NP15947.RAB2MmQDI_YHtHym_D0Ev2B22t7olevx1mDCkxN98OBz0130_assertion wasDerivedFrom ctd_human-20130708 NP15947.RAB2MmQDI_YHtHym_D0Ev2B22t7olevx1mDCkxN98OBz0130_provenance.
- NP15947.RAB2MmQDI_YHtHym_D0Ev2B22t7olevx1mDCkxN98OBz0130_assertion wasGeneratedBy ECO_0000218 NP15947.RAB2MmQDI_YHtHym_D0Ev2B22t7olevx1mDCkxN98OBz0130_provenance.