Varaico: Literature-Extracted Genetic Variants

Gene:TGFBR2
Variant:p.R190H
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TGFBR2

NM_003242.6:p.R190H

Associated Papers

The current understanding of germline predisposition in non-syndromic sagittal craniosynostosis: a systematic review.

Bille A et al.

Child's Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery, 2023

Identification of clinically actionable secondary genetic variants from whole-genome sequencing in a large-scale Chinese population.

Cong PK et al.

Clinical and Translational Medicine, 2022

35538921 (PubMed )
Supplement: CTM2-12-e866-s001.docx

Targeting HER2 in colorectal cancer: The landscape of amplification and short variant mutations in ERBB2 and ERBB3.

Ross JS et al.

Cancer, 2018

29338072 (PubMed )
Supplement: CNCR-124-1358-s002.xlsx › Colon

Single suture craniosynostosis: Identification of rare variants in genes associated with syndromic forms.

Clarke CM et al.

American Journal of Medical Genetics. Part A, 2018

New population-based exome data question the pathogenicity of some genetic variants previously associated with Marfan syndrome.

Yang RQ et al.

Bmc Genetics, 2014

24941995 (PubMed )
Supplement: 1471-2156-15-74-S2.docx

Identification of novel FBN1 and TGFBR2 mutations in 65 probands with Marfan syndrome or Marfan-like phenotypes.

Chung BH et al.

American Journal of Medical Genetics. Part A, 2009

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