Varaico: Literature-Extracted Genetic Variants

Gene:CHST11
Variant:p.R42L
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CHST11

NM_018413.6:p.R42L

Associated Papers

Inherited CHST11/MIR3922 deletion is associated with a novel recessive syndrome presenting with skeletal malformation and malignant lymphoproliferative disease.

Chopra SS et al.

Molecular Genetics & Genomic Medicine, 2015

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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."