Varaico: Literature-Extracted Genetic Variants

Gene:FLNB
Variant:p.P1582_G1586delFs
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FLNB

NM_001457.4:p.P1582_G1586delFs

Associated Papers

Disease-associated mutations in the actin-binding domain of filamin B cause cytoplasmic focal accumulations correlating with disease severity.

Daniel PB et al.

Human Mutation, 2012

Mutations in two regions of FLNB result in atelosteogenesis I and III.

Farrington-Rock C et al.

Human Mutation, 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."