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Expanding the Mtm1 Mutational Spectrum: Novel Variants Including the First Multi-Exonic Duplication and Development of a Locus-Specific Database

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P-005-1A7

Author(s)

Oliveira, J

Oliveira, ME

Kress, W

Taipa, R

Pires, MM

Hilbert, P

Baxter, P

Santos, M

Buermans, H

den Dunnen, JT

Santos, R

Tipo de Documento

Article

Year published

2013

Publicado

in EUROPEAN JOURNAL OF HUMAN GENETICS, ISSN: 1018-4813

Volume: 21, Número: 5, Páginas: 540-549 (10)

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Publication Identifiers

DOI: 10.1038/ejhg.2012.201

Handle: https://hdl.handle.net/10400.18/1048

Pubmed: 22968136

SCOPUS: 2-s2.0-84876688412

Wos: WOS:000317727300011

Source Identifiers

ISSN: 1018-4813

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Expanding the Mtm1 Mutational Spectrum: Novel Variants Including the First Multi-Exonic Duplication and Development of a Locus-Specific Database

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Expanding the Mtm1 Mutational Spectrum: Novel Variants Including the First Multi-Exonic Duplication and Development of a Locus-Specific Database

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