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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SURF1

Variant:p.E270_V276ins2

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SURF1

NM_003172.4:p.E270_V276ins2

hg38:chr9:133352067 A>ACGATGTACTGCAGATGCT

Associated Papers

Inherited Optic Neuropathies: Real-World Experience in the Paediatric Neuro-Ophthalmology Clinic.

Gilhooley MJ et al.

Genes, 2024

38397177 (PubMed )

Supplement: genes-15-00188-s001.zip › genes-2779399-supplementary.pdf

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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."