Varaico: Literature-Extracted Genetic Variants

Gene:PHOX2A
Variant:p.Q135_V136Splc
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PHOX2A

NM_005169.4:p.Q135_V136Splc

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

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

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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."