Varaico: Literature-Extracted Genetic Variants

Gene:PHOX2A
Variant:p.W137C
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PHOX2A

NM_005169.4:p.W137C

Associated Papers

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

Jurgens JA et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025

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

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

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

Jurgens JA et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

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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."