Associated Papers
FGF9 variant in 46,XY DSD patient suggests a role for dimerization in sex determination.
Croft B et al.
Clinical Genetics, 2023
36349847 (PubMed )
Supplement: CGE-103-277-s003.xlsx › Sheet1
Filamin C in cardiomyopathy: from physiological roles to DNA variants.
Song S et al.
Heart Failure Reviews, 2022
Family-Based Whole-Exome Analysis of Specific Language Impairment (SLI) Identifies Rare Variants in BUD13, a Component of the Retention and Splicing (RES) Complex.
Andres EM et al.
Brain Sciences, 2021
The Role of Z-disc Proteins in Myopathy and Cardiomyopathy.
Wadmore K et al.
International Journal of Molecular Sciences, 2021
A mutation update for the FLNC gene in myopathies and cardiomyopathies.
Verdonschot JAJ et al.
Human Mutation, 2020
Screening of the Filamin C Gene in a Large Cohort of Hypertrophic Cardiomyopathy Patients.
Gómez J et al.
Circulation. Cardiovascular Genetics, 2017
Investigating the role of filamin C in Belgian patients with frontotemporal dementia linked to GRN deficiency in FTLD-TDP brains.
Janssens J et al.
Acta Neuropathologica Communications, 2015
26555887 (PubMed )
Supplement: 40478_2015_246_MOESM1_ESM.doc
Select a paper to view details