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Updated: May 24, 2025

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
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Published on: August 15, 2019

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NALCN和UNC80的基因型-表型景观-相关疾病

Paloma Parra-Díaz1,2,3, Arnaud Monteil4,5,6, Daniel Calame7,8

  • 1Department of Neurology, Hospital Ruber Internacional, Madrid, Spain.

Neurology
|March 6, 2025
PubMed
概括

在NALCN和UNC80的遗传变异导致严重的神经发育障碍. 这项研究扩展了表型,将特定变异与明显的临床特征联系起来,如关节和,有助于诊断.

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Although the genetic makeup of an organism plays a major role in determining the phenotype, there are also several environmental factors, such as temperature, oxygen availability, presence of mutagens, that can alter an organism’s phenotype.
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In addition to multiple alleles at the same locus influencing traits, numerous genes or alleles at different locations may interact and influence phenotypes in a phenomenon called epistasis. For example, rabbit fur can be black or brown depending on whether the animal is homozygous dominant or heterozygous at a TYRP1 locus. However, if the rabbit is also homozygous recessive at a locus on the tyrosinase gene (TYR), it will have an unshaded coat that appears white, regardless of its TYRP1...
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