Varaico: Literature-Extracted Genetic Variants

Gene:TGFBR2
Variant:p.C138R
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TGFBR2

NM_003242.6:p.C138R

Associated Papers

Novel variant alters splicing of TGFB2 in family with features of Loeys-Dietz syndrome.

Gordon ER et al.

Frontiers in Genetics, 2024

Targeted exome sequencing reveals distinct pathogenic variants in Iranians with colorectal cancer.

Ashktorab H et al.

Oncotarget, 2017

28002797 (PubMed )
Supplement: oncotarget-08-7852-s002.xlsx › TGFBR2.Ion

Mutations in TGFBR2 gene cause spontaneous cervical artery dissection.

Pezzini A et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2011

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