Unmasking Retinitis Pigmentosa complex cases by a whole genome sequencing algorithm based on open-access tools: hidden recessive inheritance and potential oligogenic variants.
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| Title: | Unmasking Retinitis Pigmentosa complex cases by a whole genome sequencing algorithm based on open-access tools: hidden recessive inheritance and potential oligogenic variants. |
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| Authors: | González-del Pozo, María1,2 (AUTHOR), Fernández-Suárez, Elena1 (AUTHOR), Martín-Sánchez, Marta1 (AUTHOR), Bravo-Gil, Nereida1,2 (AUTHOR), Méndez-Vidal, Cristina1,2 (AUTHOR), Rodríguez-de la Rúa, Enrique3,4 (AUTHOR), Borrego, Salud1,2 (AUTHOR), Antiñolo, Guillermo1,2 (AUTHOR) guillermo.antinolo.sspa@juntadeandalucia.es |
| Source: | Journal of Translational Medicine. 2/12/2020, Vol. 18 Issue 1, p1-12. 12p. |
| Database: | Academic Search Ultimate |
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| Header | DbId: asn DbLabel: Academic Search Ultimate An: 141726161 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Unmasking Retinitis Pigmentosa complex cases by a whole genome sequencing algorithm based on open-access tools: hidden recessive inheritance and potential oligogenic variants. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AR" term="%22González-del+Pozo%2C+María%22">González-del Pozo, María</searchLink><relatesTo>1,2</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Fernández-Suárez%2C+Elena%22">Fernández-Suárez, Elena</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Martín-Sánchez%2C+Marta%22">Martín-Sánchez, Marta</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Bravo-Gil%2C+Nereida%22">Bravo-Gil, Nereida</searchLink><relatesTo>1,2</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Méndez-Vidal%2C+Cristina%22">Méndez-Vidal, Cristina</searchLink><relatesTo>1,2</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Rodríguez-de+la+Rúa%2C+Enrique%22">Rodríguez-de la Rúa, Enrique</searchLink><relatesTo>3,4</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Borrego%2C+Salud%22">Borrego, Salud</searchLink><relatesTo>1,2</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Antiñolo%2C+Guillermo%22">Antiñolo, Guillermo</searchLink><relatesTo>1,2</relatesTo> (AUTHOR)<i> guillermo.antinolo.sspa@juntadeandalucia.es</i> – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22Journal+of+Translational+Medicine%22">Journal of Translational Medicine</searchLink>. 2/12/2020, Vol. 18 Issue 1, p1-12. 12p. |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=141726161 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1186/s12967-020-02258-3 Languages: – Code: eng Text: English PhysicalDescription: Pagination: PageCount: 12 StartPage: 1 Titles: – TitleFull: Unmasking Retinitis Pigmentosa complex cases by a whole genome sequencing algorithm based on open-access tools: hidden recessive inheritance and potential oligogenic variants. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: González-del Pozo, María – PersonEntity: Name: NameFull: Fernández-Suárez, Elena – PersonEntity: Name: NameFull: Martín-Sánchez, Marta – PersonEntity: Name: NameFull: Bravo-Gil, Nereida – PersonEntity: Name: NameFull: Méndez-Vidal, Cristina – PersonEntity: Name: NameFull: Rodríguez-de la Rúa, Enrique – PersonEntity: Name: NameFull: Borrego, Salud – PersonEntity: Name: NameFull: Antiñolo, Guillermo IsPartOfRelationships: – BibEntity: Dates: – D: 12 M: 02 Text: 2/12/2020 Type: published Y: 2020 Identifiers: – Type: issn-print Value: 14795876 Numbering: – Type: volume Value: 18 – Type: issue Value: 1 Titles: – TitleFull: Journal of Translational Medicine Type: main |
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