Varaico: Literature-Extracted Genetic Variants

Gene:THBS1
Variant:p.N708K
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THBS1

NM_003246.4:p.N708K

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

Thrombospondin Mutations and Patients With Primary Congenital Glaucoma in a United States Population.

Boese EA et al.

Journal of Glaucoma, 2023

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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."