Varaico: Literature-Extracted Genetic Variants

Gene:CTNNB1
Variant:p.L228I
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CTNNB1

NM_001904.4:p.L228I

Associated Papers

Short anagen hair syndrome: association with mono- and biallelic variants in WNT10A and a genetic overlap with male pattern hair loss.

Cesarato N et al.

The British Journal of Dermatology, 2023

Targeted next-generation sequencing (NGS) analysis of mutations in nonsyndromic tooth agenesis candidate genes : Analysis of a Turkish cohort.

Keskin G et al.

Journal of Orofacial Orthopedics = Fortschritte Der Kieferorthopadie : Organ/official Journal Deutsche Gesellschaft Fur Kieferorthopadie, 2022

Prevalence of WNT10A gene mutations in non-syndromic oligodontia.

Ruiz-Heiland G et al.

Clinical Oral Investigations, 2019

WNT10A gene is the second molecular candidate in a cohort of young Italian subjects with ectodermal derivative impairment (EDI).

Guazzarotti L et al.

Clinical Genetics, 2018

A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement.

Prasad MK et al.

Journal of Medical Genetics, 2016

26502894 (PubMed )
Supplement: jmedgenet-2015-103302-s2.pdf
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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."