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- NP597367.RA3wJCAkT2H11BHgogYe0HmqbOSfRpbQ4bC325lb-8LFg130_assertion type Assertion NP597367.RA3wJCAkT2H11BHgogYe0HmqbOSfRpbQ4bC325lb-8LFg130_head.
- NP597367.RA3wJCAkT2H11BHgogYe0HmqbOSfRpbQ4bC325lb-8LFg130_assertion description "[We confirm an overlap in the NPHS1/NPHS2 mutation spectrum with the characterization of a unique di-genic inheritance of NPHS1 and NPHS2 mutations, which results in a 'tri-allelic' hit and appears to modify the phenotype from CNF to one of congenital focal segmental glomerulosclerosis (FSGS).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP597367.RA3wJCAkT2H11BHgogYe0HmqbOSfRpbQ4bC325lb-8LFg130_provenance.
- NP597367.RA3wJCAkT2H11BHgogYe0HmqbOSfRpbQ4bC325lb-8LFg130_assertion evidence source_evidence_literature NP597367.RA3wJCAkT2H11BHgogYe0HmqbOSfRpbQ4bC325lb-8LFg130_provenance.
- NP597367.RA3wJCAkT2H11BHgogYe0HmqbOSfRpbQ4bC325lb-8LFg130_assertion SIO_000772 11854170 NP597367.RA3wJCAkT2H11BHgogYe0HmqbOSfRpbQ4bC325lb-8LFg130_provenance.
- NP597367.RA3wJCAkT2H11BHgogYe0HmqbOSfRpbQ4bC325lb-8LFg130_assertion wasDerivedFrom befree-20150227 NP597367.RA3wJCAkT2H11BHgogYe0HmqbOSfRpbQ4bC325lb-8LFg130_provenance.
- NP597367.RA3wJCAkT2H11BHgogYe0HmqbOSfRpbQ4bC325lb-8LFg130_assertion wasGeneratedBy ECO_0000203 NP597367.RA3wJCAkT2H11BHgogYe0HmqbOSfRpbQ4bC325lb-8LFg130_provenance.