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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SRSF5

Variant:p.I177V

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SRSF5

NM_001320214.2:p.I177V

hg38:chr14:69771083 A>G

Associated Papers

Identification of missense MAB21L1 variants in microphthalmia and aniridia.

Seese SE et al.

Human Mutation, 2021

33973683 (PubMed )

Supplement: HUMU-42-877-s001.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."