In Vitro Splicing Assay Proves the Pathogenicity of Intronic Variants in MRAP
| dc.contributor.author | Smith, C | en_US |
| dc.contributor.author | Maharaj, AV | en_US |
| dc.contributor.author | Qamar, Y | en_US |
| dc.contributor.author | Read, J | en_US |
| dc.contributor.author | Williams, J | en_US |
| dc.contributor.author | Chan, L | en_US |
| dc.contributor.author | Marimuthu, V | en_US |
| dc.contributor.author | Metherell, L | en_US |
| dc.date.accessioned | 2021-05-17T17:55:04Z | |
| dc.date.issued | 2021-05-03 | en_US |
| dc.identifier.issn | 2472-1972 | en_US |
| dc.identifier.uri | https://qmro.qmul.ac.uk/xmlui/handle/123456789/71889 | |
| dc.format.extent | a85 - a86 | en_US |
| dc.relation.ispartof | Journal of the Endocrine Society | en_US |
| dc.title | In Vitro Splicing Assay Proves the Pathogenicity of Intronic Variants in MRAP | en_US |
| dc.type | Article | |
| dc.identifier.doi | 10.1210/jendso/bvab048.172 | en_US |
| pubs.issue | Supplement_1 | en_US |
| pubs.notes | Not known | en_US |
| pubs.volume | 5 | en_US |
| rioxxterms.funder | Default funder | en_US |
| rioxxterms.identifier.project | Default project | en_US |
| qmul.funder | Improved genetic diagnosis of primary adrenal insufficiency::Barts Charity | en_US |
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Centre for Endocrinology [560]
