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Article

Structural Analysis of G1691S Variant in the Human Filamin B Gene Responsible for Larsen Syndrome: A Comparative Computational Approach.

Journal of cellular biochemistry - 1 Jul 2017

P Sneha, D Kumar Thirumal, Tanwar Himani, R Siva, C George Priya Doss, Zayed Hatem

Abstract excerpt

Larsen syndrome (LRS) is a rare genetic disease associated with variable manifestations including skeletal malformations, dislocations of the large joints, and notable changes in facial and limb features. Genetic variants in the Filamin B (FLNB) gene are associated with the development of LRS. We searched two literature databases (OMIM and PubMed) and three gene variant databases (HGMD, UniProt, & dbSNP) to...

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Identifiers

PMID: 28145583
DOI: 10.1002/jcb.25920

Genes

FLNB

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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