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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:XYLT1

Variant:p.Q94_P102delFs

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XYLT1

NM_022166.4:p.Q94_P102delFs

hg38:chr16:17470490 CGGGGCCGCCTCCCCGCGCCCGCGCCT>C

Associated Papers

GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome.

LaCroix AJ et al.

American Journal of Human Genetics, 2019

30554721 (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."