Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP316764.RA8om5NLpFo9r5cPZ0apuxU9pfxRQI1d6BOAJ7V71h3_U130_assertion> ?p ?o ?g. }
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- NP316764.RA8om5NLpFo9r5cPZ0apuxU9pfxRQI1d6BOAJ7V71h3_U130_assertion type Assertion NP316764.RA8om5NLpFo9r5cPZ0apuxU9pfxRQI1d6BOAJ7V71h3_U130_head.
- NP316764.RA8om5NLpFo9r5cPZ0apuxU9pfxRQI1d6BOAJ7V71h3_U130_assertion description "[Heterozygote deletions or mutations of pseudoautosomal 1 region (PAR1) encompassing the short stature homeobox-containing (SHOX) gene cause Leri-Weill Dyschondrosteosis (LWD), which is a dominantly inherited osteochondroplasia characterized by short stature with mesomelic shortening of the upper and lower limbs and Madelung deformity of the wrists.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP316764.RA8om5NLpFo9r5cPZ0apuxU9pfxRQI1d6BOAJ7V71h3_U130_provenance.
- NP316764.RA8om5NLpFo9r5cPZ0apuxU9pfxRQI1d6BOAJ7V71h3_U130_assertion evidence source_evidence_literature NP316764.RA8om5NLpFo9r5cPZ0apuxU9pfxRQI1d6BOAJ7V71h3_U130_provenance.
- NP316764.RA8om5NLpFo9r5cPZ0apuxU9pfxRQI1d6BOAJ7V71h3_U130_assertion SIO_000772 19400538 NP316764.RA8om5NLpFo9r5cPZ0apuxU9pfxRQI1d6BOAJ7V71h3_U130_provenance.
- NP316764.RA8om5NLpFo9r5cPZ0apuxU9pfxRQI1d6BOAJ7V71h3_U130_assertion wasDerivedFrom befree-20140225 NP316764.RA8om5NLpFo9r5cPZ0apuxU9pfxRQI1d6BOAJ7V71h3_U130_provenance.
- NP316764.RA8om5NLpFo9r5cPZ0apuxU9pfxRQI1d6BOAJ7V71h3_U130_assertion wasGeneratedBy ECO_0000203 NP316764.RA8om5NLpFo9r5cPZ0apuxU9pfxRQI1d6BOAJ7V71h3_U130_provenance.