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Article / Letter to editor
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Leiden University Medical Center (LUMC)
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locus-specific database
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Dunnen, J.T. den
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Oliveira, J.
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Oliveira, M.E.
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Santos, M.
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Santos, R.
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Taipa, R.
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Oliveira, J.; Gruber, A.; Cardoso, M.; Taipa, R.; Fineza, I.; Goncalves, A.; ... ; Sousa, M.
2018
LAMA2 gene mutation update: Toward a more comprehensive picture of the laminin-alpha 2 variome and its related phenotypes
Article / Letter to editor
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Oliveira, J.; Oliveira, M.E.; Kress, W.; Taipa, R.; Pires, M.M.; Hilbert, P.; ... ; Santos, R.
2013
Expanding the MTM1 mutational spectrum: novel variants including the first multi-exonic duplication and development of a locus-specific database
Article / Letter to editor
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