Varaico: Literature-Extracted Genetic Variants

Gene:FZD6
Variant:p.E584*
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FZD6

NM_003506.4:p.E584*

Associated Papers

A novel pathogenic variant in the FZD6 gene causes recessive nail dysplasia in a Moroccan family.

Lanvin PL et al.

Clinical and Experimental Dermatology, 2023

A possible founder mutation in FZD6 gene in a Turkish family with autosomal recessive nail dysplasia.

Saygı C et al.

Bmc Medical Genetics, 2019

The role of GPCRs in bone diseases and dysfunctions.

Luo J et al.

Bone Research, 2019

A novel pathogenic variant in the FZD6 gene causes recessive nail dysplasia in a large Iranian kindred.

Mohammadi-Asl J et al.

Journal of Dermatological Science, 2017

Isolated recessive nail dysplasia caused by FZD6 mutations: report of three families and review of the literature.

Kasparis C et al.

Clinical and Experimental Dermatology, 2016

Recessive mutations in the gene encoding frizzled 6 cause twenty nail dystrophy--expanding the differential diagnosis for pachyonychia congenita.

Wilson NJ et al.

Journal of Dermatological Science, 2013

A novel missense mutation in the gene FZD6 underlies autosomal recessive nail dysplasia.

Raza SI et al.

The British Journal of Dermatology, 2013

FZD6 encoding the Wnt receptor frizzled 6 is mutated in autosomal-recessive nail dysplasia.

Naz G et al.

The British Journal of Dermatology, 2012

Mutations in Frizzled 6 cause isolated autosomal-recessive nail dysplasia.

Fröjmark AS et al.

American Journal of Human Genetics, 2011

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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."