Varaico: Literature-Extracted Genetic Variants

Gene:SETX
Variant:p.V1571M
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SETX

NM_015046.7:p.V1571M

Associated Papers

Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders.

Jurgens JA et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

38585811 (PubMed )
Supplement: media-3.xlsx › Sheet1

Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias.

Morais S et al.

European Journal of Human Genetics : Ejhg, 2017

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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."