Villate, Olatz, Ibarluzea, Nekane, Fraile-Bethencourt, Eugenia, Valenzuela, Alberto, Velasco, Eladio A., Grozeva, Detelina  ORCID: https://orcid.org/0000-0003-3239-8415, Raymond, F. L., Botella, Maria P. and Tejada, Maria-Isabel
2018.
Functional analyses of a novel splice variant in the CHD7 gene, found by next generation sequencing, Confirm Its pathogenicity in a Spanish patient and diagnose him with CHARGE syndrome.
Frontiers in Genetics
9
, 7.
10.3389/fgene.2018.00007
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Official URL: http://dx.doi.org/10.3389/fgene.2018.00007
| Item Type: | Article |
|---|---|
| Date Type: | Publication |
| Status: | Published |
| Schools: | Schools > Medicine |
| Publisher: | Frontiers |
| ISSN: | 1664-8021 |
| Date of First Compliant Deposit: | 19 April 2018 |
| Date of Acceptance: | 8 January 2018 |
| Last Modified: | 05 May 2023 14:06 |
| URI: | https://orca.cardiff.ac.uk/id/eprint/110368 |
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