Varaico: Literature-Extracted Genetic Variants

Gene:FLNB
Variant:p.D1573Y
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FLNB

NM_001457.4:p.D1573Y

Associated Papers

Genetics, epidemiology and management of clubfoot and related disorders.

Umar M et al.

Genes & Diseases, 2025

Genotype-phenotype correlation in clubfoot (talipes equinovarus).

Hordyjewska-Kowalczyk E et al.

Journal of Medical Genetics, 2022

Whole Exome Sequencing in Individuals with Idiopathic Clubfoot Reveals a Recurrent Filamin B (FLNB) Deletion.

Quiggle A et al.

Clinical Orthopaedics and Related Research, 2022

Genetics of clubfoot; recent progress and future perspectives.

Basit S et al.

European Journal of Medical Genetics, 2018

Three novel missense mutations in the filamin B gene are associated with isolated congenital talipes equinovarus.

Yang H et al.

Human Genetics, 2016

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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."