Compound heterozygous variants including a novel copy number variation in a child with atypical ataxia-telangiectasia: a case report.
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| Title: | Compound heterozygous variants including a novel copy number variation in a child with atypical ataxia-telangiectasia: a case report. |
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| Authors: | Lee, Hoo Young1,2,3,4 (AUTHOR), Jang, Dae-Hyun5 (AUTHOR) dhjangmd@naver.com, Kim, Jae-Won5 (AUTHOR), Lee, Dong-Woo5 (AUTHOR), Jang, Ja-Hyun6 (AUTHOR), Joo, Joungsu7 (AUTHOR) |
| Source: | BMC Medical Genomics. 8/17/2021, Vol. 14 Issue 1, p1-10. 10p. |
| Database: | Academic Search Ultimate |
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| FullText | Links: – Type: pdflink Text: Availability: 1 |
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| Header | DbId: asn DbLabel: Academic Search Ultimate An: 152012879 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Compound heterozygous variants including a novel copy number variation in a child with atypical ataxia-telangiectasia: a case report. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AR" term="%22Lee%2C+Hoo+Young%22">Lee, Hoo Young</searchLink><relatesTo>1,2,3,4</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Jang%2C+Dae-Hyun%22">Jang, Dae-Hyun</searchLink><relatesTo>5</relatesTo> (AUTHOR)<i> dhjangmd@naver.com</i><br /><searchLink fieldCode="AR" term="%22Kim%2C+Jae-Won%22">Kim, Jae-Won</searchLink><relatesTo>5</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Lee%2C+Dong-Woo%22">Lee, Dong-Woo</searchLink><relatesTo>5</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Jang%2C+Ja-Hyun%22">Jang, Ja-Hyun</searchLink><relatesTo>6</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Joo%2C+Joungsu%22">Joo, Joungsu</searchLink><relatesTo>7</relatesTo> (AUTHOR) – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22BMC+Medical+Genomics%22">BMC Medical Genomics</searchLink>. 8/17/2021, Vol. 14 Issue 1, p1-10. 10p. |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=152012879 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1186/s12920-021-01086-8 Languages: – Code: eng Text: English PhysicalDescription: Pagination: PageCount: 10 StartPage: 1 Titles: – TitleFull: Compound heterozygous variants including a novel copy number variation in a child with atypical ataxia-telangiectasia: a case report. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Lee, Hoo Young – PersonEntity: Name: NameFull: Jang, Dae-Hyun – PersonEntity: Name: NameFull: Kim, Jae-Won – PersonEntity: Name: NameFull: Lee, Dong-Woo – PersonEntity: Name: NameFull: Jang, Ja-Hyun – PersonEntity: Name: NameFull: Joo, Joungsu IsPartOfRelationships: – BibEntity: Dates: – D: 17 M: 08 Text: 8/17/2021 Type: published Y: 2021 Identifiers: – Type: issn-print Value: 17558794 Numbering: – Type: volume Value: 14 – Type: issue Value: 1 Titles: – TitleFull: BMC Medical Genomics Type: main |
| ResultId | 1 |