| Predicate |
Object |
| contentType |
Case Reports|Letter |
| endingPage |
809 |
| issn |
1550-8080 |
| issueIdentifier |
6 |
| pageRange |
808-809 |
| publicationName |
Annals of clinical and laboratory science |
| startingPage |
808 |
| bibliographicCitation |
Liu L, Qin J, Luo H. Whole-exome Sequencing Identified a Novel Frameshift Mutation of Neurofibromin 1 in a Chinese Family with Neurofibromatosis Type 1. Ann Clin Lab Sci. 2018 Nov;48(6):808–9. PMID: 30610056. |
| creator |
http://rdf.ncbi.nlm.nih.gov/pubchem/author/ORCID_0000-0002-9501-651X
http://rdf.ncbi.nlm.nih.gov/pubchem/author/ORCID_0000-0001-9719-9930
http://rdf.ncbi.nlm.nih.gov/pubchem/author/MD5_2c969c2e0e68f0465d4c022e96fcc1e0 |
| date |
201811 |
| identifier |
https://pubmed.ncbi.nlm.nih.gov/30610056 |
| isPartOf |
http://rdf.ncbi.nlm.nih.gov/pubchem/journal/574
https://portal.issn.org/resource/ISSN/1550-8080 |
| language |
English |
| source |
https://pubmed.ncbi.nlm.nih.gov/ |
| title |
Whole-exome Sequencing Identified a Novel Frameshift Mutation of Neurofibromin 1 in a Chinese Family with Neurofibromatosis Type 1 |
| discusses |
http://id.nlm.nih.gov/mesh/M0179586
http://id.nlm.nih.gov/mesh/M000647477 |
| hasPrimarySubjectTerm |
http://id.nlm.nih.gov/mesh/D025542Q000235
http://id.nlm.nih.gov/mesh/D016368
http://id.nlm.nih.gov/mesh/D000073359Q000379
http://id.nlm.nih.gov/mesh/D044466Q000235
http://id.nlm.nih.gov/mesh/D009456Q000235 |
| hasSubjectTerm |
http://id.nlm.nih.gov/mesh/D008297
http://id.nlm.nih.gov/mesh/D009456Q000175
http://id.nlm.nih.gov/mesh/D010375
http://id.nlm.nih.gov/mesh/D006801
http://id.nlm.nih.gov/mesh/D005260
http://id.nlm.nih.gov/mesh/D002648 |
| discussesAsDerivedByTextMining |
http://rdf.ncbi.nlm.nih.gov/pubchem/disease/DZID8650
http://rdf.ncbi.nlm.nih.gov/pubchem/gene/MD5_8606c64666a9d2a9531f0e1afb661827 |