Varaico: Literature-Extracted Genetic Variants

Gene:C1R
Variant:p.L230P
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C1R

NM_001733.7:p.L230P

Associated Papers

Non-oral manifestations in adults with a clinical and molecularly confirmed diagnosis of periodontal Ehlers-Danlos syndrome.

Angwin C et al.

Frontiers in Genetics, 2023

37323685 (PubMed )
Supplement: Table1.xlsx › Sheet1

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

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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."