Varaico: Literature-Extracted Genetic Variants

Gene:FLNA
Variant:p.P1223L
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FLNA

NM_001110556.2:p.P1223L

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

Are transient protein-protein interactions more dispensable?

Ghadie MA et al.

Plos Computational Biology, 2022

35404956 (PubMed )
Supplement: pcbi.1010013.s002.xlsx › _D__Lit-SI_disMut_edgotypes

Mutation Edgotype Drives Fitness Effect in Human.

Ghadie M et al.

Frontiers in Bioinformatics, 2021

36303776 (PubMed )
Supplement: Table2.XLSX › _D__Lit-SI_pathMt_edgotype

Estimating dispensable content in the human interactome.

Ghadie M et al.

Nature Communications, 2019

31324802 (PubMed )
Supplement: 41467_2019_11180_MOESM6_ESM.xlsx › _D__IntAct-SI_disease_mut

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

Filamin A mutation is one cause of FG syndrome.

Unger S et al.

American Journal of Medical Genetics. Part A, 2007

Frontometaphyseal dysplasia: mutations in FLNA and phenotypic diversity.

Robertson SP et al.

American Journal of Medical Genetics. Part A, 2006

Molecular pathology of filamin A: diverse phenotypes, many functions.

Robertson SP

Clinical Dysmorphology, 2004

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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."