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- NP1259424.RAQHw1ZsopnBN0n17spTg4smCujMWxbN8lI4OoLhy1e8c130_assertion type Assertion NP1259424.RAQHw1ZsopnBN0n17spTg4smCujMWxbN8lI4OoLhy1e8c130_head.
- NP1259424.RAQHw1ZsopnBN0n17spTg4smCujMWxbN8lI4OoLhy1e8c130_assertion description "[HL due to mutations in COL11A2, encoding collagen type XI alpha-2, can be non-syndromic autosomal-dominant or autosomal-recessive, and also syndromic as in Otospondylomegaepiphyseal Dysplasia, Stickler syndrome type III, and Weissenbacher-Zweymuller syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1259424.RAQHw1ZsopnBN0n17spTg4smCujMWxbN8lI4OoLhy1e8c130_provenance.
- NP1259424.RAQHw1ZsopnBN0n17spTg4smCujMWxbN8lI4OoLhy1e8c130_assertion evidence source_evidence_literature NP1259424.RAQHw1ZsopnBN0n17spTg4smCujMWxbN8lI4OoLhy1e8c130_provenance.
- NP1259424.RAQHw1ZsopnBN0n17spTg4smCujMWxbN8lI4OoLhy1e8c130_assertion SIO_000772 25633957 NP1259424.RAQHw1ZsopnBN0n17spTg4smCujMWxbN8lI4OoLhy1e8c130_provenance.
- NP1259424.RAQHw1ZsopnBN0n17spTg4smCujMWxbN8lI4OoLhy1e8c130_assertion wasDerivedFrom befree-2016 NP1259424.RAQHw1ZsopnBN0n17spTg4smCujMWxbN8lI4OoLhy1e8c130_provenance.
- NP1259424.RAQHw1ZsopnBN0n17spTg4smCujMWxbN8lI4OoLhy1e8c130_assertion wasGeneratedBy ECO_0000203 NP1259424.RAQHw1ZsopnBN0n17spTg4smCujMWxbN8lI4OoLhy1e8c130_provenance.