Varaico: Literature-Extracted Genetic Variants

Gene:XYLT1
Variant:p.R657C
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XYLT1

NM_022166.4:p.R657C

Associated Papers

Prioritizing de novo potential non-canonical splicing variants in neurodevelopmental disorders.

Li K et al.

Ebiomedicine, 2024

38113761 (PubMed )
Supplement: mmc2.xlsx › Table_S4

Genomic profiling of a metastatic anaplastic melanocytic neuroectodermal tumor arising from a mature thymic teratoma as part of a mediastinal germ cell tumor.

Mayeur S et al.

Cold Spring Harbor Molecular Case Studies, 2023

37160315 (PubMed )
Supplement: supp_mcs.a006257_Supplemental_Material.pdf
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