Varaico: Literature-Extracted Genetic Variants

Gene:TAB1
Variant:p.L158*
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TAB1

NM_006116.3:p.L158*

Associated Papers

KBG syndrome involving a single-nucleotide duplication in ANKRD11.

Kleyner R et al.

Cold Spring Harbor Molecular Case Studies, 2016

27900361 (PubMed )
Supplement: supp_mcs.a001131_Supp_File_4_Tables_1-3.zip › Supplementary_Table_2.xlsx › VAAST_results_38837_denovo.csv
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