Varaico: Literature-Extracted Genetic Variants

Gene:LRP4
Variant:p.G1199S
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LRP4

NM_002334.4:p.G1199S

Associated Papers

Exploring skeletal disorders in cattle and sheep: a WGS-based framework for diagnosis and classification.

Jacinto J et al.

Genetics, Selection, Evolution : Gse, 2025

Frequency of genotypic markers for genetic disorders, colour, polledness, and major genes in Blanco Orejinegro cattle.

Caivio-Nasner S et al.

Tropical Animal Health and Production, 2021

Mutations in the fourth β-propeller domain of LRP4 are associated with isolated syndactyly with fusion of the third and fourth fingers.

Sukenik Halevy R et al.

Human Mutation, 2018

Genetic disorders in beef cattle: a review.

Ciepłoch A et al.

Genes & Genomics, 2017

LRP4 in neuromuscular junction and bone development and diseases.

Shen C et al.

Bone, 2015

Advances in the Molecular Genetics of Non-syndromic Syndactyly.

Deng H et al.

Current Genomics, 2015

LRP4 third β-propeller domain mutations cause novel congenital myasthenia by compromising agrin-mediated MuSK signaling in a position-specific manner.

Ohkawara B et al.

Human Molecular Genetics, 2014

Assessment of the genomic variation in a cattle population by re-sequencing of key animals at low to medium coverage.

Jansen S et al.

Bmc Genomics, 2013

23826801 (PubMed )
Supplement: 1471-2164-14-446-S6.xls › Sheet1
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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."