Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP908140.RAa7I2fvggvPhp1wte1mGOr_VkAeT1dpurXZhVezg0M2A130_assertion> ?p ?o ?g. }
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- NP908140.RAa7I2fvggvPhp1wte1mGOr_VkAeT1dpurXZhVezg0M2A130_assertion type Assertion NP908140.RAa7I2fvggvPhp1wte1mGOr_VkAeT1dpurXZhVezg0M2A130_head.
- NP908140.RAa7I2fvggvPhp1wte1mGOr_VkAeT1dpurXZhVezg0M2A130_assertion description "[We reviewed the eight reported cases with proven PIGV mutations and re-defined the phenotypic spectrum associated with PIGV mutations: intellectual disability, the distinct facial gestalt, brachytelephalangy, and hyperphosphatasia are constant features but also anorectal malformations and Hirschsprung disease as well as cleft lip/palate and hearing impairment should be considered as part of the clinical spectrum.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP908140.RAa7I2fvggvPhp1wte1mGOr_VkAeT1dpurXZhVezg0M2A130_provenance.
- NP908140.RAa7I2fvggvPhp1wte1mGOr_VkAeT1dpurXZhVezg0M2A130_assertion evidence source_evidence_literature NP908140.RAa7I2fvggvPhp1wte1mGOr_VkAeT1dpurXZhVezg0M2A130_provenance.
- NP908140.RAa7I2fvggvPhp1wte1mGOr_VkAeT1dpurXZhVezg0M2A130_assertion SIO_000772 21739589 NP908140.RAa7I2fvggvPhp1wte1mGOr_VkAeT1dpurXZhVezg0M2A130_provenance.
- NP908140.RAa7I2fvggvPhp1wte1mGOr_VkAeT1dpurXZhVezg0M2A130_assertion wasDerivedFrom befree-2016 NP908140.RAa7I2fvggvPhp1wte1mGOr_VkAeT1dpurXZhVezg0M2A130_provenance.
- NP908140.RAa7I2fvggvPhp1wte1mGOr_VkAeT1dpurXZhVezg0M2A130_assertion wasGeneratedBy ECO_0000203 NP908140.RAa7I2fvggvPhp1wte1mGOr_VkAeT1dpurXZhVezg0M2A130_provenance.