Varaico: Literature-Extracted Genetic Variants

Gene:FLNA
Variant:p.D1184E
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FLNA

NM_001110556.2:p.D1184E

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 recurrent mutation causing Melnick-Needles syndrome in females confers a severe, lethal phenotype in males.

Spencer C et al.

American Journal of Medical Genetics. Part A, 2018

Expansion of the Spectrum of FLNA Mutations Associated with Melnick-Needles Syndrome.

Foley C et al.

Molecular Syndromology, 2010

Mutational analysis of two boys with the severe perinatally lethal Melnick-Needles syndrome.

Santos HH et al.

American Journal of Medical Genetics. Part A, 2010

The new bone biology: pathologic, molecular, and clinical correlates.

Cohen MM

American Journal of Medical Genetics. Part A, 2006

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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."