Varaico: Literature-Extracted Genetic Variants

Gene:CHAT
Variant:p.R222P
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CHAT

NM_020549.5:p.R222P

Associated Papers

Impaired neutrophil-mediated cell death drives Ewing's Sarcoma in the background of Down syndrome.

Peirone S et al.

Frontiers in Oncology, 2024

39421445 (PubMed )
Supplement: Table1.xlsx › Supplementary_Table_1

An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Famiglietti ML et al.

Database : the Journal of Biological Databases and Curation, 2019

30937429 (PubMed )
Supplement: famiglietti_supplementarytables1_rev_baz040.xlsx › common
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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."