Associated Papers
Protocol optimization of a targeted sequencing panel for genomic profiling of bronchoalveolar lavage fluid in lung cancer.
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Supplement: CAM4-12-17632-s002.xlsx › S11.HighCovVariantsSurvPanel
Functional and Biochemical Consequences of Disease Variants in Neurotransmitter Transporters: A Special Emphasis on Folding and Trafficking Deficits.
Bhat S et al.
Pharmacology & Therapeutics, 2021
Precision Health Resource of Control iPSC Lines for Versatile Multilineage Differentiation.
Hildebrandt MR et al.
Stem Cell Reports, 2019
31813827 (PubMed )
Supplement: mmc3.xlsx › SNVs
Defining the blanks--pharmacochaperoning of SLC6 transporters and ABC transporters.
Chiba P et al.
Pharmacological Research, 2014
Molecular mechanisms of glycine transporter GlyT2 mutations in startle disease.
James VM et al.
Biological Chemistry, 2012
Mutations within the human GLYT2 (SLC6A5) gene associated with hyperekplexia.
Eulenburg V et al.
Biochemical and Biophysical Research Communications, 2006
Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle disease.
Rees MI et al.
Nature Genetics, 2006
[Molecular bases of hereditary hyperekplexia].
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Revista De Neurologia, 0
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