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- source_evidence_literature type ECO_0000212 NP1322295.RAv3omb4_TL_ACjnZRfOHZpx5D7qXON186fyTcAvO9me8130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1322295.RAv3omb4_TL_ACjnZRfOHZpx5D7qXON186fyTcAvO9me8130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1322295.RAv3omb4_TL_ACjnZRfOHZpx5D7qXON186fyTcAvO9me8130_provenance.
- befree-2016 importedOn "2016-02-19" NP1322295.RAv3omb4_TL_ACjnZRfOHZpx5D7qXON186fyTcAvO9me8130_provenance.
- NP1322295.RAv3omb4_TL_ACjnZRfOHZpx5D7qXON186fyTcAvO9me8130_assertion wasGeneratedBy ECO_0000203 NP1322295.RAv3omb4_TL_ACjnZRfOHZpx5D7qXON186fyTcAvO9me8130_provenance.
- NP1322295.RAv3omb4_TL_ACjnZRfOHZpx5D7qXON186fyTcAvO9me8130_assertion wasDerivedFrom befree-2016 NP1322295.RAv3omb4_TL_ACjnZRfOHZpx5D7qXON186fyTcAvO9me8130_provenance.
- NP1322295.RAv3omb4_TL_ACjnZRfOHZpx5D7qXON186fyTcAvO9me8130_assertion SIO_000772 7802041 NP1322295.RAv3omb4_TL_ACjnZRfOHZpx5D7qXON186fyTcAvO9me8130_provenance.
- NP1322295.RAv3omb4_TL_ACjnZRfOHZpx5D7qXON186fyTcAvO9me8130_assertion evidence source_evidence_literature NP1322295.RAv3omb4_TL_ACjnZRfOHZpx5D7qXON186fyTcAvO9me8130_provenance.
- NP1322295.RAv3omb4_TL_ACjnZRfOHZpx5D7qXON186fyTcAvO9me8130_assertion description "[We have examined the following possible linked markers in 69 relatives in this family: the c-ret gene (HSCR); the human PAX3 gene (HuP2) on chromosome 2q (WS1) and placental alkaline phosphatase (ALPP) on chromosome 2q (linked to WS1); argininosuccinate synthetase (ASS) on chromosome 9q, close to ABO blood groups which have shown weak linkage to WS; and the beta 1 GABA receptor gene (GABARB1) on chromosome 4q13-11, close to c-kit, deletions of which cause piebaldism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1322295.RAv3omb4_TL_ACjnZRfOHZpx5D7qXON186fyTcAvO9me8130_provenance.