Varaico: Literature-Extracted Genetic Variants

Gene:FOXF1
Variant:p.S283_Y284delFs
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FOXF1

NM_001451.3:p.S283_Y284delFs

Associated Papers

Perturbation of semaphorin and VEGF signaling in ACDMPV lungs due to FOXF1 deficiency.

Karolak JA et al.

Respiratory Research, 2021

34315444 (PubMed )
Supplement: 12931_2021_1797_MOESM1_ESM.pdf

Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins.

Szafranski P et al.

Human Genetics, 2016

Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain.

Sen P et al.

Human Mutation, 2013

Alveolar capillary dysplasia with misalignment of the pulmonary veins: clinical, histological, and genetic aspects.

Slot E et al.

Pulmonary Circulation, 0

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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."