Varaico: Literature-Extracted Genetic Variants

Gene:LRP4
Variant:p.S1020fs
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LRP4

NM_002334.4:p.S1020fs

Associated Papers

A novel homozygous missense variant in LRP4 causing Cenani-Lenz syndactyly syndrome and literature review.

Fu Y et al.

Molecular Genetics & Genomic Medicine, 2024

Lethal Cenani Lenz syndrome in two consecutive pregnancies: Further extension of phenotype from Maldives.

Yesodharan D et al.

American Journal of Medical Genetics. Part A, 2021

Deficiency of lrp4 in zebrafish and human LRP4 mutation induce aberrant activation of Jagged-Notch signaling in fin and limb development.

Tian J et al.

Cellular and Molecular Life Sciences : Cmls, 2019

Truncating mutations in LRP4 lead to a prenatal lethal form of Cenani-Lenz syndrome.

Lindy AS et al.

American Journal of Medical Genetics. Part A, 2014

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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."