Varaico: Literature-Extracted Genetic Variants

Gene:ABCA3
Variant:p.I207F
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ABCA3

NM_001089.3:p.I207F

Associated Papers

Organoid modeling of human fetal lung alveolar development reveals mechanisms of cell fate patterning and neonatal respiratory disease.

Lim K et al.

Cell Stem Cell, 2023

Genetics and phenomics of hypothyroidism and thyroid dys- and agenesis due to PAX8 and TTF1 mutations.

Montanelli L et al.

Molecular and Cellular Endocrinology, 2010

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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."