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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RXYLT1

Variant:p.P49delFs

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RXYLT1

NM_014254.3:p.P49delFs

hg38:chr12:63780102 GC>G

Associated Papers

RETINAL MANIFESTATIONS OF WALKER-WARBURG SYNDROME IN TWO SIBLINGS WITH RXYLT1 MUTATIONS.

Jung EE et al.

Retinal Cases & Brief Reports, 2024

36007194 (PubMed )

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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."