Varaico: Literature-Extracted Genetic Variants

Gene:FLNA
Variant:p.Q1248*
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FLNA

NM_001110556.2:p.Q1248*

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

Cardiovascular and connective tissue disorder features in FLNA-related PVNH patients: progress towards a refined delineation of this syndrome.

Billon C et al.

Orphanet Journal of Rare Diseases, 2021

47 patients with FLNA associated periventricular nodular heterotopia.

Lange M et al.

Orphanet Journal of Rare Diseases, 2015

Periventricular heterotopia: new insights into Ehlers-Danlos syndrome.

Sheen VL et al.

Clinical Medicine & Research, 2005

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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."