Varaico: Literature-Extracted Genetic Variants

Gene:TNXB
Variant:p.R29W
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TNXB

NM_001365276.2:p.R29W

Associated Papers

Impact of mutational profiles on response of primary oestrogen receptor-positive breast cancers to oestrogen deprivation.

Gellert P et al.

Nature Communications, 2016

27827358 (PubMed )
Supplement: ncomms13294-s3.xlsx › Phase_I

Mutation in TNXB gene causes moderate to severe Ehlers-Danlos syndrome.

Kaufman CS et al.

World Journal of Medical Genetics, 2016

Phenotypic effects of Ehlers-Danlos syndrome-associated mutation on the FnIII domain of tenascin-X.

Zhuang S et al.

Protein Science : a Publication of the Protein Society, 2010

Elastic fiber abnormalities in hypermobility type Ehlers-Danlos syndrome patients with tenascin-X mutations.

Zweers MC et al.

Clinical Genetics, 2005

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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."