Varaico: Literature-Extracted Genetic Variants

Gene:TBL2
Variant:p.E8Q
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TBL2

NM_012453.4:p.E8Q

Associated Papers

Rare Tumor-Normal Matched Whole Exome Sequencing Identifies Novel Genomic Pathogenic Germline and Somatic Aberrations.

Sprissler R et al.

Cancers, 2020

32570879 (PubMed )
Supplement: cancers-12-01618-s001.zip › cancers-817200-Supplementary_Materials3 › Supplementary_table_S1.xlsx › TSG

Exome sequencing of 85 Williams-Beuren syndrome cases rules out coding variation as a major contributor to remaining variance in social behavior.

Kopp ND et al.

Molecular Genetics & Genomic Medicine, 2018

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