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- source_evidence_literature type ECO_0000212 NP716526.RAT8PlrWrNBCXOhlXznJFhSLwTIZyyPP05LklE78bVTs8130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP716526.RAT8PlrWrNBCXOhlXznJFhSLwTIZyyPP05LklE78bVTs8130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP716526.RAT8PlrWrNBCXOhlXznJFhSLwTIZyyPP05LklE78bVTs8130_provenance.
- NP716526.RAT8PlrWrNBCXOhlXznJFhSLwTIZyyPP05LklE78bVTs8130_assertion description "[Cryptic intragenic deletion of the SHOX gene in a family with L�ri-Weill dyschondrosteosis detected by Multiplex Ligation-Dependent Probe Amplification (MLPA).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP716526.RAT8PlrWrNBCXOhlXznJFhSLwTIZyyPP05LklE78bVTs8130_provenance.
- NP716526.RAT8PlrWrNBCXOhlXznJFhSLwTIZyyPP05LklE78bVTs8130_assertion evidence source_evidence_literature NP716526.RAT8PlrWrNBCXOhlXznJFhSLwTIZyyPP05LklE78bVTs8130_provenance.
- NP716526.RAT8PlrWrNBCXOhlXznJFhSLwTIZyyPP05LklE78bVTs8130_assertion SIO_000772 19169498 NP716526.RAT8PlrWrNBCXOhlXznJFhSLwTIZyyPP05LklE78bVTs8130_provenance.
- NP716526.RAT8PlrWrNBCXOhlXznJFhSLwTIZyyPP05LklE78bVTs8130_assertion wasDerivedFrom befree-2016 NP716526.RAT8PlrWrNBCXOhlXznJFhSLwTIZyyPP05LklE78bVTs8130_provenance.
- NP716526.RAT8PlrWrNBCXOhlXznJFhSLwTIZyyPP05LklE78bVTs8130_assertion wasGeneratedBy ECO_0000203 NP716526.RAT8PlrWrNBCXOhlXznJFhSLwTIZyyPP05LklE78bVTs8130_provenance.
- befree-2016 importedOn "2016-02-19" NP716526.RAT8PlrWrNBCXOhlXznJFhSLwTIZyyPP05LklE78bVTs8130_provenance.