Varaico: Literature-Extracted Genetic Variants

Gene:FOXF1
Variant:p.A231fs
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FOXF1

NM_001451.3:p.A231fs

Associated Papers

Genetic features of alveolar capillary dysplasia with misalignment of pulmonary veins in Japanese infants.

Ikeda M et al.

Early Human Development, 2025

Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.

Mensah MA et al.

Nature, 2023

De Novo mutation of FOXF1 causes alveolar capillary dysplasia with misalignment of pulmonary veins: A case report.

Deng L et al.

Medicine, 2021

A recurrent 8 bp frameshifting indel in FOXF1 defines a novel mutation hotspot associated with alveolar capillary dysplasia with misalignment of pulmonary veins.

Karolak JA et al.

American Journal of Medical Genetics. Part A, 2019

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

Megacystis in the First Trimester as an Unreported Sonographic Finding of Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins Confirmed by Whole-exome Sequencing.

Yang YD et al.

Journal of Medical Ultrasound, 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."