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UnknownStructural Basis of the Interaction between Tuberous Sclerosis Complex 1 (TSC1) and Tre2-Bub2-Cdc16 Domain Family Member 7 (TBC1D7).
Not available
S-EPMC4861430 | biostudies-literature
UnknownA reliable cell-based assay for testing unclassified TSC2 gene variants.
Not available
S-EPMC2986163 | biostudies-literature
UnknownEnzyme therapy and immune response in relation to CRIM status: the Dutch experience in classic infantile Pompe disease.
Not available
S-EPMC4341007 | biostudies-literature
UnknownRheb is essential for murine development.
Not available
S-EPMC3126339 | biostudies-literature
UnknownSevere bleeding complications and multiple kidney transplants in a patient with tuberous sclerosis complex caused by a novel TSC2 missense variant.
Not available
S-EPMC5778681 | biostudies-literature
UnknownUpdate of the Pompe variant database for the prediction of clinical phenotypes: Novel disease-associated variants, common sequence variants, and results from newborn screening.
Not available
S-EPMC7898817 | biostudies-literature
UnknownIdentification of regions critical for the integrity of the TSC1-TSC2-TBC1D7 complex.
Not available
S-EPMC3979717 | biostudies-literature
UnknownEffects of a higher dose of alglucosidase alfa on ventilator-free survival and motor outcome in classic infantile Pompe disease: an open-label single-center study.
Not available
S-EPMC4851694 | biostudies-literature
UnknownExtension of the Pompe mutation database by linking disease-associated variants to clinical severity.
Not available
S-EPMC6851659 | biostudies-literature
UnknownBroad variation in phenotypes for common GAA genotypes in Pompe disease.
Not available
S-EPMC9292902 | biostudies-literature
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