Exome sequencing identifies pathogenic variants of VPS13B in a patient with familial 16p11.2 duplication

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Location: Deutsche Nationalbibliothek Frankfurt am Main

ISSN: 1471-2350

Extent: Online-Ressource

Language: Englisch

Notes: online resource.

Bibliographic citation: Exome sequencing identifies pathogenic variants of VPS13B in a patient with familial 16p11.2 duplication ; volume:17 ; number:1 ; day:10 ; month:11 ; year:2016 ; pages:1-6 ; date:12.2016
BMC medical genetics ; 17, Heft 1 (10.11.2016), 1-6, 12.2016

Creator: Dastan, Jila

Contributor: Chijiwa, Chieko
Tang, Flamingo
Martell, Sally
Qiao, Ying
Rajcan-Separovic, Evica
Lewis, M. E. Suzanne
SpringerLink (Online service)

DOI: 10.1186/s12881-016-0340-0

URN: urn:nbn:de:1111-2016120313912

Rights: Der Zugriff auf das Objekt ist unbeschränkt möglich.

Last update: 14.08.2025, 10:49 AM CEST

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Dastan, Jila
Chijiwa, Chieko
Tang, Flamingo
Martell, Sally
Qiao, Ying
Rajcan-Separovic, Evica
Lewis, M. E. Suzanne
SpringerLink (Online service)

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Exome sequencing identifies pathogenic variants of VPS13B in a patient with familial 16p11.2 duplication

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Other Objects (12)

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Whole-exome sequencing identifies novel candidate predisposition genes for familial polycythemia vera

Whole exome sequencing identifies recessive germline mutations in FAM160A1 in familial NK/T cell lymphoma

Whole-exome sequencing identifies a novel germline variant in PTK7 gene in familial colorectal cancer

Whole exome sequencing identifies APCDD1 and HDAC5 genes as potentially cancer predisposing in familial colorectal cancer

Whole exome sequencing identifies novel germline variants of SLC15A4 gene as potentially cancer predisposing in familial colorectal cancer

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Exome sequencing identifies nonsegregating nonsense ATM and PALB2variants in familial pancreatic cancer

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Whole exome sequencing identifies recessive germline mutations in FAM160A1 in familial NK/T cell lymphoma

Whole-exome sequencing identifies a novel germline variant in PTK7 gene in familial colorectal cancer

Whole exome sequencing identifies APCDD1 and HDAC5 genes as potentially cancer predisposing in familial colorectal cancer

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