Varaico: Literature-Extracted Genetic Variants

Gene:FLNA
Variant:p.E27*
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FLNA

NM_001110556.2:p.E27*

Associated Papers

Case Report: genotype-phenotype correlations in FLNA mutations: insights from a case of multisystem dysfunction.

Liu J et al.

Frontiers in Genetics, 2025

41555926 (PubMed )
Supplement: Table1.docx

Congenital Short-Bowel Syndrome: Clinical and Genetic Presentation in China.

Wang Y et al.

Jpen. Journal of Parenteral and Enteral Nutrition, 2021

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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."