PMC:4572578 / 11832-12442 JSONTXT

{"target":"https://pubannotation.org/docs/sourcedb/PMC/sourceid/4572578","sourcedb":"PMC","sourceid":"4572578","source_url":"https://www.ncbi.nlm.nih.gov/pmc/4572578","text":"Mutations in NBAS have not been linked to liver disease before, but a homozygous missense mutation c.5741G\u003eA (p.Arg1914His) in the C-terminal domain of unknown function of NBAS has been associated with a syndrome of short stature, cone and optic nerve atrophy, and Pelger-Huët anomaly in Yakuts (SOPH syndrome [MIM: 614800]).17 RALF-causing NBAS deficiency and SOPH syndrome are clearly different clinical entities. Importantly, individuals with SOPH syndrome were not reported to have ALF or any hepatic disease manifestation and the impact of the SOPH-associated mutation on NBAS protein function is unknown.","tracks":[{"project":"2_test","denotations":[{"id":"26073778-20577004-2053411","span":{"begin":325,"end":327},"obj":"20577004"}],"attributes":[{"subj":"26073778-20577004-2053411","pred":"source","obj":"2_test"}]}],"config":{"attribute types":[{"pred":"source","value type":"selection","values":[{"id":"2_test","color":"#bcec93","default":true}]}]}}