Varaico: Literature-Extracted Genetic Variants

Gene:CD151
Variant:p.Q117_L118Splc
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CD151

NM_004357.5:p.Q117_L118Splc

Associated Papers

New Report of a Different Clinical Presentation of CD151 Splicing Mutation (c.351+2T>C): Could TSPAN11 be Considered as a Potential Modifier Gene for CD151?

Rahmani N et al.

Molecular Syndromology, 2022

Recessive mutation in tetraspanin CD151 causes Kindler syndrome-like epidermolysis bullosa with multi-systemic manifestations including nephropathy.

Vahidnezhad H et al.

Matrix Biology : Journal of the International Society for Matrix Biology, 2018

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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."