Varaico: Literature-Extracted Genetic Variants

Gene:FLNA
Variant:p.E245K
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FLNA

NM_001110556.2:p.E245K

Associated Papers

Phenotype Analysis in Two Families With Otopalatodigital Syndrome Spectrum Disorder Based on FLNA Gene Variants.

Schwarz M et al.

Clinical Genetics, 2026

Frontometaphyseal dysplasia: mutations in FLNA and phenotypic diversity.

Robertson SP et al.

American Journal of Medical Genetics. Part A, 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."