Varaico: Literature-Extracted Genetic Variants

Gene:FLNA
Variant:p.Q1259H
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FLNA

NM_001110556.2:p.Q1259H

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

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

Whole exome sequence analysis of Peters anomaly.

Weh E et al.

Human Genetics, 2014

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

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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."