Varaico: Literature-Extracted Genetic Variants

Gene:CTDSPL2
Variant:p.T46T
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CTDSPL2

NM_016396.3:p.T46T

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

HERC5 is a prognostic biomarker for post-liver transplant recurrent human hepatocellular carcinoma.

Xue F et al.

Journal of Translational Medicine, 2015

26653219 (PubMed )
Supplement: 12967_2015_743_MOESM1_ESM.xlsx › Table_S4
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