Varaico: Literature-Extracted Genetic Variants

Gene:FLNB
Variant:p.T1557T
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FLNB

NM_001457.4:p.T1557T

Associated Papers

Unraveling the genetic architecture of congenital vertebral malformation with reference to the developing spine.

Zhao S et al.

Nature Communications, 2024

38321032 (PubMed )
Supplement: 41467_2024_45442_MOESM6_ESM.xlsx › Sheet1

Spondylocarpotarsal synostosis syndrome due to a novel loss of function FLNB variant: a case report.

Yasin S et al.

Bmc Musculoskeletal Disorders, 2021

Disruption of the Flnb gene in mice phenocopies the human disease spondylocarpotarsal synostosis syndrome.

Farrington-Rock C et al.

Human Molecular Genetics, 2008

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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."