Varaico: Literature-Extracted Genetic Variants

Gene:FRAS1
Variant:p.V2322fs
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FRAS1

NM_025074.7:p.V2322fs

Associated Papers

The Spectrum of Disease-Associated Alleles in Countries with a Predominantly Slavic Population.

Yanus GA et al.

International Journal of Molecular Sciences, 2024

39273284 (PubMed )
Supplement: ijms-25-09335-s001.zip › ijms-3137350-supplementary.pdf

Characteristic dental pattern with hypodontia and short roots in Fraser syndrome.

Kunz F et al.

American Journal of Medical Genetics. Part A, 2020

Two unrelated families with variable expression of Fraser syndrome due to the same pathogenic variant in the FRAS1 gene.

Midro AT et al.

American Journal of Medical Genetics. Part A, 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."