Article

Loss of<i>GFAP</i>causes optico-retinal dysplasia and vision impairment

2022-11-15

Abstract excerpt

<h4>ABSTRACT</h4> Diagnosis of genetic diseases has taken tremendous steps forward since the human genome project and technical advancements such as next generation sequencing. However, in the past years it has become evident that the classical “one gene – one phenotype” model is insufficient to encompass the intricacies of human genetics. Examples are emerging that variants in a gene can cause quite diverging phe...

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Literature Corpus work: 0497c1ac-3f64-5cbd-bcaa-ce2f869e159f
DOI: 10.1101/2022.11.09.22282105

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