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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TYR

Variant:p.D456Splc

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TYR

NM_000372.5:p.D456Splc

hg38:chr11:89284955 G>T

Associated Papers

Functional Characterization of Splice Variants in the Diagnosis of Albinism.

Diallo M et al.

International Journal of Molecular Sciences, 2024

39201349 (PubMed )

Supplement: ijms-25-08657-s001.zip › Supplementary_Table_S1.xlsx › Tableau_variants__pissages

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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."