Associated Papers
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Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.
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PhenoHM: human-mouse comparative phenome-genome server.
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Supplement: gkq472_nar-00429-web-b-2010-File006.xls › MPO_to_OMIM_allelic_Variants
Diagnosis of neuronal ceroid lipofuscinosis: mutation detection strategies.
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Expert Opinion on Medical Diagnostics, 2007
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