Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP902442.RA6B80-eaTvIuEbn37RBLIS5FIvY9uZyCWhkbsXoMASqw130_assertion> ?p ?o ?g. }
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- NP902442.RA6B80-eaTvIuEbn37RBLIS5FIvY9uZyCWhkbsXoMASqw130_assertion type Assertion NP902442.RA6B80-eaTvIuEbn37RBLIS5FIvY9uZyCWhkbsXoMASqw130_head.
- NP902442.RA6B80-eaTvIuEbn37RBLIS5FIvY9uZyCWhkbsXoMASqw130_assertion description "[Homozygosity mapping and whole-exome sequencing to detect SLC45A2 and G6PC3 mutations in a single patient with oculocutaneous albinism and neutropenia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP902442.RA6B80-eaTvIuEbn37RBLIS5FIvY9uZyCWhkbsXoMASqw130_provenance.
- NP902442.RA6B80-eaTvIuEbn37RBLIS5FIvY9uZyCWhkbsXoMASqw130_assertion evidence source_evidence_literature NP902442.RA6B80-eaTvIuEbn37RBLIS5FIvY9uZyCWhkbsXoMASqw130_provenance.
- NP902442.RA6B80-eaTvIuEbn37RBLIS5FIvY9uZyCWhkbsXoMASqw130_assertion SIO_000772 21677667 NP902442.RA6B80-eaTvIuEbn37RBLIS5FIvY9uZyCWhkbsXoMASqw130_provenance.
- NP902442.RA6B80-eaTvIuEbn37RBLIS5FIvY9uZyCWhkbsXoMASqw130_assertion wasDerivedFrom befree-2016 NP902442.RA6B80-eaTvIuEbn37RBLIS5FIvY9uZyCWhkbsXoMASqw130_provenance.
- NP902442.RA6B80-eaTvIuEbn37RBLIS5FIvY9uZyCWhkbsXoMASqw130_assertion wasGeneratedBy ECO_0000203 NP902442.RA6B80-eaTvIuEbn37RBLIS5FIvY9uZyCWhkbsXoMASqw130_provenance.