Varaico: Literature-Extracted Genetic Variants

Gene:FRA10AC1
Variant:p.E165_V166del1
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FRA10AC1

NM_145246.5:p.E165_V166del1

Associated Papers

A novel homozygous splicing variant in FRA10AC1: further delineation of the phenotype.

Abdel-Hamid MS et al.

Journal of Human Genetics, 2026

Bi-allelic FRA10AC1 variants in a multisystem human syndrome.

Banka S et al.

Brain : a Journal of Neurology, 2022

A Biallelic Variant in FRA10AC1 Is Associated With Neurodevelopmental Disorder and Growth Retardation.

Alsaleh N et al.

Neurology. Genetics, 2022

Biallelic FRA10AC1 variants cause a neurodevelopmental disorder with growth retardation.

von Elsner L et al.

Brain : a Journal of Neurology, 2022

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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."