Varaico: Literature-Extracted Genetic Variants

Gene:FREM2
Variant:p.G2507Splc
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FREM2

NM_207361.6:p.G2507Splc

Associated Papers

Excluding embryos with two novel mutations in FREM2 gene by the next-generation sequencing-based single nucleotide polymorphism haplotyping.

Zhou Y et al.

Aging, 2021

A homozygous mutation p.Arg2167Trp in FREM2 causes isolated cryptophthalmos.

Yu Q et al.

Human Molecular Genetics, 2018

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

Fraser syndrome due to homozygosity for a splice site mutation of FREM2.

Shafeghati Y et al.

American Journal of Medical Genetics. Part A, 2008

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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."