Varaico: Literature-Extracted Genetic Variants

Gene:CABLES1
Variant:p.R289K
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CABLES1

NM_001100619.3:p.R289K

Associated Papers

Whole-Exome Sequencing Identifies Pathogenic Germline Variants in Patients with Lynch-Like Syndrome.

Dos Santos W et al.

Cancers, 2022

36077770 (PubMed )
Supplement: cancers-14-04233-s001.zip › cancers-1703647-Supplementary_Table_S3.xlsx › Supp.Table_S3

Loss-of-function mutations in the CABLES1 gene are a novel cause of Cushing's disease.

Hernández-Ramírez LC et al.

Endocrine-related Cancer, 2017

28533356 (PubMed )
Supplement: erc-24-379-t002.pdf
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