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Published in 2023 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.2145
Abstract: Filamin A, encoded by the X‐linked gene FLNA, links the cell membrane with the cytoskeleton and acts as a regulator of the actin cytoskeleton. Mutations in FLNA cause a large spectrum of congenital malformations during…
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Keywords:
melnick needles;
mutation flna;
needles syndrome;
flna attenuating ... See more keywords