Varaico: Literature-Extracted Genetic Variants

Gene:FLNA
Variant:p.D1159A
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FLNA

NM_001110556.2:p.D1159A

Associated Papers

Case Report: genotype-phenotype correlations in FLNA mutations: insights from a case of multisystem dysfunction.

Liu J et al.

Frontiers in Genetics, 2025

41555926 (PubMed )
Supplement: Table1.docx

Identification of A Novel Variant of Filamin A Destroying the Attraction Between Benzene Rings and Sulfhydryl in Developmental Dysplasia of the Hip.

Lu YL et al.

Dna and Cell Biology, 2023

Phenotype and Genotype Study in a Case of Frontometaphyseal Dysplasia 1.

Yapijakis C et al.

Advances in Experimental Medicine and Biology, 2021

Structure of filamin A immunoglobulin-like repeat 10 from Homo sapiens.

Page RC et al.

Acta Crystallographica. Section F, Structural Biology and Crystallization Communications, 2011

Identification of novel nuclear protein interactions with the N-terminal part of filamin A.

Qiu H et al.

Bioscience, Biotechnology, and Biochemistry, 2011

The new bone biology: pathologic, molecular, and clinical correlates.

Cohen MM

American Journal of Medical Genetics. Part A, 2006

Frontometaphyseal dysplasia: mutations in FLNA and phenotypic diversity.

Robertson SP et al.

American Journal of Medical Genetics. Part A, 2006

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