Varaico: Literature-Extracted Genetic Variants

Gene:XYLT1
Variant:p.R453Q
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XYLT1

NM_022166.4:p.R453Q

Associated Papers

De novo and inherited variants in coding and regulatory regions in genetic cardiomyopathies.

Vadgama N et al.

Human Genomics, 2022

iPSC modeling of severe aplastic anemia reveals impaired differentiation and telomere shortening in blood progenitors.

Melguizo-Sanchis D et al.

Cell Death & Disease, 2018

29374141 (PubMed )
Supplement: 41419_2017_141_MOESM8_ESM.xlsx › SAA3_Deleterious_Hits
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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."