@dpavot:29666464
Annnotations
PGR-UNK
{"project":"PGR-UNK","denotations":[{"id":"T1","span":{"begin":28,"end":33},"obj":"57505"},{"id":"T2","span":{"begin":176,"end":189},"obj":"HP:0001425"}],"relations":[{"id":"R1","pred":"unknown","subj":"T1","obj":"T2"}],"text":"We report a case with novel AARS2 gene mutations with developed striking cerebellar atrophy and leukoencephalopathy, which helps to further understand the clinical and genetic heterogeneity of AARS2-L."}