Associated Papers
Utilizing ExAC to assess the hidden contribution of variants of unknown significance to Sanfilippo Type B incidence.
Clark WT et al.
Plos One, 2018
29979746 (PubMed )
Supplement: pone.0200008.s004.xlsx › Sheet1
Single-Cell Genetic Analysis Using Automated Microfluidics to Resolve Somatic Mosaicism.
Szulwach KE et al.
Plos One, 2015
26302375 (PubMed )
Supplement: pone.0135007.s010.xlsx › Sheet1
Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype.
Valstar MJ et al.
Journal of Inherited Metabolic Disease, 2010
Sanfilippo B in an elderly female psychiatric patient: a rare but relevant diagnosis in presenile dementia.
Verhoeven WM et al.
Acta Psychiatrica Scandinavica, 2010
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