Varaico: Literature-Extracted Genetic Variants

Gene:EFNB3
Variant:p.R190*
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EFNB3

NM_001406.4:p.R190*

Associated Papers

Gene Identification for Ocular Congenital Cranial Motor Neuron Disorders Using Human Sequencing, Zebrafish Screening, and Protein Binding Microarrays.

Jurgens JA et al.

Investigative Ophthalmology & Visual Science, 2025

40162949 (PubMed )
Supplement: iovs-66-3-62_s002.xlsx › Supp_Table1

Gene identification for ocular congenital cranial motor neuron disorders using human sequencing, zebrafish screening, and protein binding microarrays.

Jurgens JA et al.

Biorxiv : the Preprint Server for Biology, 2024

39314366 (PubMed )
Supplement: media-2.xlsx › Supp_Table1

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
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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."