Varaico: Literature-Extracted Genetic Variants

Gene:UMPS
Variant:p.R405*
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UMPS

NM_000373.4:p.R405*

Associated Papers

Selected Monogenic Genetic Diseases in Holstein Cattle-A Review.

Gozdek M et al.

Genes, 2024

Role of genetic introgression in introducing mutant alleles in Bos indicus cattle and prevalence of lethal genetic disorders in Bos taurus × Bos indicus and Bos indicus cattle in India.

Sudhakar A et al.

Tropical Animal Health and Production, 2023

Four novel candidate causal variants for deficient homozygous haplotypes in Holstein cattle.

Häfliger IM et al.

Scientific Reports, 2022

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

Utility of Gene Panels for the Diagnosis of Inborn Errors of Metabolism in a Metabolic Reference Center.

Barbosa-Gouveia S et al.

Genes, 2021

34440436 (PubMed )
Supplement: genes-12-01262-s001.zip › genes-1321555-supplementary.pdf

Biallelic mutations in CAD, impair de novo pyrimidine biosynthesis and decrease glycosylation precursors.

Ng BG et al.

Human Molecular Genetics, 2015

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."