Varaico: Literature-Extracted Genetic Variants

Gene:FRAS1
Variant:p.T2331insFs
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FRAS1

NM_025074.7:p.T2331insFs

Associated Papers

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

Molecular study of 33 families with Fraser syndrome new data and mutation review.

van Haelst MM et al.

American Journal of Medical Genetics. Part A, 2008

Mutation analysis of the FRAS1 gene demonstrates new mutations in a propositus with Fraser syndrome.

Slavotinek A et al.

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."