Associated Papers
Protocol optimization of a targeted sequencing panel for genomic profiling of bronchoalveolar lavage fluid in lung cancer.
Sather CL et al.
Cancer Medicine, 2023
37587851 (PubMed )
Supplement: CAM4-12-17632-s002.xlsx › S11.HighCovVariantsSurvPanel
Small Cell Carcinoma of the Ovary, Hypercalcemic Type (SCCOHT) beyond SMARCA4 Mutations: A Comprehensive Genomic Analysis.
Auguste A et al.
Cells, 2020
32575483 (PubMed )
Supplement: cells-09-01496-s001.zip › cells-772761-supp-final-3 › Supplementary_tables_v9.xlsx › S4._Somatic___LOH__1_
A novel in-frame mutation in CLN3 leads to Juvenile neuronal ceroid lipofuscinosis in a large Pakistani family.
Sher M et al.
The International Journal of Neuroscience, 2019
30892110 (PubMed )
Supplement: supplement_1.xlsx › _Variants_305__Sequence_Ontolo
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
26986070 (PubMed )
Supplement: pone.0151760.s001.xlsx › polymorphism
A naturally occurring null variant of the NMDA type glutamate receptor NR3B subunit is a risk factor of schizophrenia.
Matsuno H et al.
Plos One, 2015
25768306 (PubMed )
Supplement: pone.0116319.s001.pdf
The identification and functional implications of human-specific "fixed" amino acid substitutions in the glutamate receptor family.
Goto H et al.
Bmc Evolutionary Biology, 2009
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