Varaico: Literature-Extracted Genetic Variants

Gene:FLNA
Variant:p.L1193P
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FLNA

NM_001110556.2:p.L1193P

Associated Papers

FLNA Variants Related to Melnick-Needles Syndrome: Two Mexican Case Reports and a Comprehensive Variant Review.

Ordaz-Robles T et al.

American Journal of Medical Genetics. Part A, 2026

Identification of A Novel Variant of Filamin A Destroying the Attraction Between Benzene Rings and Sulfhydryl in Developmental Dysplasia of the Hip.

Lu YL et al.

Dna and Cell Biology, 2023

Mutation of FLNA attenuating the migration of abdominal muscles contributed to Melnick-Needles syndrome (MNS) in a family with recurrent miscarriage.

Luo X et al.

Molecular Genetics & Genomic Medicine, 2023

A family of Melnick-Needles syndrome: a case report.

Oh CH et al.

Bmc Pediatrics, 2020

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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."