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- NP1119633.RA5g_nV3tPBkOggELoUifJAL0PnGxw-d3Kd22Onf7kD7E130_assertion type Assertion NP1119633.RA5g_nV3tPBkOggELoUifJAL0PnGxw-d3Kd22Onf7kD7E130_head.
- NP1119633.RA5g_nV3tPBkOggELoUifJAL0PnGxw-d3Kd22Onf7kD7E130_assertion description "[Our findings in the largest reported cohort to date significantly extend the range of reported manifestations associated with PIGV mutations and demonstrate that the severe end of the clinical spectrum presents as a multiple congenital malformation syndrome with a high frequency of Hirschsprung disease, vesicoureteral, and renal anomalies as well as anorectal malformations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1119633.RA5g_nV3tPBkOggELoUifJAL0PnGxw-d3Kd22Onf7kD7E130_provenance.
- NP1119633.RA5g_nV3tPBkOggELoUifJAL0PnGxw-d3Kd22Onf7kD7E130_assertion evidence source_evidence_literature NP1119633.RA5g_nV3tPBkOggELoUifJAL0PnGxw-d3Kd22Onf7kD7E130_provenance.
- NP1119633.RA5g_nV3tPBkOggELoUifJAL0PnGxw-d3Kd22Onf7kD7E130_assertion SIO_000772 24129430 NP1119633.RA5g_nV3tPBkOggELoUifJAL0PnGxw-d3Kd22Onf7kD7E130_provenance.
- NP1119633.RA5g_nV3tPBkOggELoUifJAL0PnGxw-d3Kd22Onf7kD7E130_assertion wasDerivedFrom befree-2016 NP1119633.RA5g_nV3tPBkOggELoUifJAL0PnGxw-d3Kd22Onf7kD7E130_provenance.
- NP1119633.RA5g_nV3tPBkOggELoUifJAL0PnGxw-d3Kd22Onf7kD7E130_assertion wasGeneratedBy ECO_0000203 NP1119633.RA5g_nV3tPBkOggELoUifJAL0PnGxw-d3Kd22Onf7kD7E130_provenance.