Varaico: Literature-Extracted Genetic Variants

Gene:FLNA
Variant:p.A30delFs
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FLNA

NM_001110556.2:p.A30delFs

Associated Papers

Where the congenital heart disease meets the pulmonary arterial hypertension, FLNA matters: a case report and literature review.

Deng X et al.

Bmc Pediatrics, 2020

Congenital emphysematous lung disease associated with a novel Filamin A mutation. Case report and literature review.

Pelizzo G et al.

Bmc Pediatrics, 2019

Filamin A (FLNA) mutation-A newcomer to the childhood interstitial lung disease (ChILD) classification.

Shelmerdine SC et al.

Pediatric Pulmonology, 2017

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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."