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{"target":"https://pubannotation.org/docs/sourcedb/@dpavot/sourceid/29453416","sourcedb":"@dpavot","sourceid":"29453416","source_url":"https://www.ncbi.nlm.nih.gov/pubmed/29453416","text":"The molecular basis of this condition started to be defined recently, and the genes related to the syndrome (ACTG2-heterozygous variant in sporadic cases; and MYH11 (myosin heavy chain 11), LMOD1 (leiomodin 1) and MYLK (myosin light chain (MLC) kinase)-autosomal recessive inheritance), encode proteins involved in the smooth muscle contraction, supporting a myopathic basis for the disease.","tracks":[{"project":"PGR-FAL","denotations":[{"id":"T1","span":{"begin":190,"end":195},"obj":"25802"},{"id":"T2","span":{"begin":139,"end":147},"obj":"HP:0003745"}],"relations":[{"id":"R1","pred":"false","subj":"T2","obj":"T1"}],"attributes":[{"subj":"T1","pred":"source","obj":"PGR-FAL"},{"subj":"T2","pred":"source","obj":"PGR-FAL"}]}],"config":{"attribute types":[{"pred":"source","value type":"selection","values":[{"id":"PGR-FAL","color":"#ecd193","default":true}]}]}}