Varaico: Literature-Extracted Genetic Variants

Gene:FLNA
Variant:p.V1249A
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FLNA

NM_001110556.2:p.V1249A

Associated Papers

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

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

Frontometaphyseal dysplasia: mutations in FLNA and phenotypic diversity.

Robertson SP et al.

American Journal of Medical Genetics. Part A, 2006

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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."