Varaico: Literature-Extracted Genetic Variants

Gene:CABLES1
Variant:p.P355P
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CABLES1

NM_001100619.3:p.P355P

Associated Papers

Waardenburg syndrome type 2 with a de novo variant of the SOX10 gene: a case report.

Li Y et al.

Bmc Medical Genomics, 2024

38659011 (PubMed )
Supplement: 12920_2024_1877_MOESM2_ESM.xlsx › H12056928648

Study of Caspase 8 mutation in oral cancer and adjacent precancer tissues and implication in progression.

Singh R et al.

Plos One, 2020

32492030 (PubMed )
Supplement: pone.0233058.s001.xlsx › RADS36

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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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."