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- source_evidence_literature type ECO_0000212 NP816929.RA9yJFVjMfbVNplNcg7glmafddqtSwqKuyT5O37PtgiX0130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP816929.RA9yJFVjMfbVNplNcg7glmafddqtSwqKuyT5O37PtgiX0130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP816929.RA9yJFVjMfbVNplNcg7glmafddqtSwqKuyT5O37PtgiX0130_provenance.
- NP816929.RA9yJFVjMfbVNplNcg7glmafddqtSwqKuyT5O37PtgiX0130_assertion description "[Here we describe an additional LND female, who presented with acute renal failure at the age of two months, in whom absence of transcription of the two HPRT alleles occurred due to as yet undescribed mechanism in LND females: the transcription of one HPRT allele was blocked due to a de novo X chromosome-autosome translocation 46,XX,t(X:2)(q26:p25), with a breaking point encompassing the HPRT gene locus, whereas the transcription of the normal allele was inhibited due to non-random inactivation of the second X-chromosome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP816929.RA9yJFVjMfbVNplNcg7glmafddqtSwqKuyT5O37PtgiX0130_provenance.
- NP816929.RA9yJFVjMfbVNplNcg7glmafddqtSwqKuyT5O37PtgiX0130_assertion evidence source_evidence_literature NP816929.RA9yJFVjMfbVNplNcg7glmafddqtSwqKuyT5O37PtgiX0130_provenance.
- NP816929.RA9yJFVjMfbVNplNcg7glmafddqtSwqKuyT5O37PtgiX0130_assertion SIO_000772 16343967 NP816929.RA9yJFVjMfbVNplNcg7glmafddqtSwqKuyT5O37PtgiX0130_provenance.
- NP816929.RA9yJFVjMfbVNplNcg7glmafddqtSwqKuyT5O37PtgiX0130_assertion wasDerivedFrom befree-20140225 NP816929.RA9yJFVjMfbVNplNcg7glmafddqtSwqKuyT5O37PtgiX0130_provenance.
- NP816929.RA9yJFVjMfbVNplNcg7glmafddqtSwqKuyT5O37PtgiX0130_assertion wasGeneratedBy ECO_0000203 NP816929.RA9yJFVjMfbVNplNcg7glmafddqtSwqKuyT5O37PtgiX0130_provenance.
- befree-20140225 importedOn "2014-02-25" NP816929.RA9yJFVjMfbVNplNcg7glmafddqtSwqKuyT5O37PtgiX0130_provenance.