Varaico: Literature-Extracted Genetic Variants

Gene:C1R
Variant:p.C309F
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C1R

NM_001733.7:p.C309F

Associated Papers

Multifocal periapical cemental dysplasia in periodontal Ehlers-Danlos syndrome combined with leukoencephalopathy in the mutation of c.890G > a, G297D [pEDS].

Nilius M et al.

Clinical Case Reports, 2022

Periodontal (formerly type VIII) Ehlers-Danlos syndrome: Description of 13 novel cases and expansion of the clinical phenotype.

El Chehadeh S et al.

Clinical Genetics, 2021

Prospective clinical investigations of children with periodontal Ehlers-Danlos syndrome identify generalized lack of attached gingiva as a pathognomonic feature.

Kapferer-Seebacher I et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

Periodontal Ehlers-Danlos syndrome is associated with leukoencephalopathy.

Kapferer-Seebacher I et al.

Neurogenetics, 2019

C1R Mutations Trigger Constitutive Complement 1 Activation in Periodontal Ehlers-Danlos Syndrome.

Gröbner R et al.

Frontiers in Immunology, 2019

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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."