| Predicate |
Object |
| contentType |
Journal Article |
| endingPage |
570 |
| issn |
0301-4851
1573-4978 |
| issueIdentifier |
4 |
| pageRange |
565-570 |
| publicationName |
Molecular Biology Reports |
| startingPage |
565 |
| bibliographicCitation |
Khan MA, Ullah A, Naeem M. Whole exome sequencing identified two novel homozygous missense variants in the same codon of CLCN7 underlying autosomal recessive infantile malignant osteopetrosis in a Pakistani family. Molecular Biology Reports. 2018 Jun 20;45(4):565–70. doi: 10.1007/s11033-018-4194-8. |
| creator |
http://rdf.ncbi.nlm.nih.gov/pubchem/author/MD5_ba276b0446f6a89bd23538f8bb9618cb
http://rdf.ncbi.nlm.nih.gov/pubchem/author/ORCID_0000-0002-3894-3085
http://rdf.ncbi.nlm.nih.gov/pubchem/author/MD5_a157d1bac42d8e6694f8a384481310d4 |
| date |
2018-06-20-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| identifier |
https://doi.org/10.1007/s11033-018-4194-8
https://pubmed.ncbi.nlm.nih.gov/29926385 |
| isPartOf |
https://portal.issn.org/resource/ISSN/1573-4978
http://rdf.ncbi.nlm.nih.gov/pubchem/journal/5917
https://portal.issn.org/resource/ISSN/0301-4851 |
| language |
English |
| source |
https://pubmed.ncbi.nlm.nih.gov/
https://scigraph.springernature.com/
https://www.crossref.org/ |
| title |
Whole exome sequencing identified two novel homozygous missense variants in the same codon of CLCN7 underlying autosomal recessive infantile malignant osteopetrosis in a Pakistani family |
| discusses |
http://id.nlm.nih.gov/mesh/M0027322
http://id.nlm.nih.gov/mesh/M0256393
http://id.nlm.nih.gov/mesh/M0004703 |
| discussesAsDerivedByTextMining |
http://rdf.ncbi.nlm.nih.gov/pubchem/disease/DZID8736
http://rdf.ncbi.nlm.nih.gov/pubchem/gene/MD5_c4ed3b997f9ff36da793da538832d8b6
http://rdf.ncbi.nlm.nih.gov/pubchem/gene/MD5_74c1db4d568bf858c4964676305245f6 |