Associated Papers
Determinants of trafficking, conduction, and disease within a K+ channel revealed through multiparametric deep mutational scanning.
Coyote-Maestas W et al.
Elife, 2022
35639599 (PubMed )
Supplement: elife-76903-data1.zip › SourceData › input_data › KCNJ_Clinvar_0325322_original_annotations_.xlsx › clinvar_result-6
Whole exome sequencing identified a novel POT1 variant as a candidate pathogenic allele underlying a Li-Fraumeni-like family.
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Frontiers in Oncology, 2022
36387164 (PubMed )
Supplement: Table_1.xlsx › sheet1
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