Varaico: Literature-Extracted Genetic Variants

Gene:FLNA
Variant:p.P1149L
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FLNA

NM_001110556.2:p.P1149L

Associated Papers

Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.

Sheppard S et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018

29907799 (PubMed )
Supplement: 41436_2018_4_MOESM3_ESM.xlsx › variant-_capture___coverage

Association of mutations in FLNA with craniosynostosis.

Fennell N et al.

European Journal of Human Genetics : Ejhg, 2015

Whole exome sequence analysis of Peters anomaly.

Weh E et al.

Human Genetics, 2014

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."