Varaico: Literature-Extracted Genetic Variants

Gene:FOXF1
Variant:p.S101L
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FOXF1

NM_001451.3:p.S101L

Associated Papers

The molecular consequences of FOXF1 missense mutations associated with alveolar capillary dysplasia with misalignment of pulmonary veins.

Edel GG et al.

Journal of Biomedical Science, 2024

Clinical Relevance of Rapid FOXF1-Targeted Sequencing in Patients Suspected of Alveolar Capillary Dysplasia With Misalignment of Pulmonary Veins.

Edel GG et al.

Laboratory Investigation; a Journal of Technical Methods and Pathology, 2023

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

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

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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."