Publication | Open Access
Epidemiological, clinical and biochemical characterization of the p.(Ala359Asp) SMPD1 variant causing Niemann–Pick disease type B
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Citations
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References
2015
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Mendelian DisorderGenetic DisorderMedicineImmunologyGenetic EpidemiologyPathologyDisease Gene IdentificationMolecular DiagnosticsBiochemical CharacterizationVariant Interpretation
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