Associated Papers
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
A novel, somatic, transforming mutation in the extracellular domain of Epidermal Growth Factor Receptor identified in myeloproliferative neoplasm.
Casolari DA et al.
Scientific Reports, 2017
28550306 (PubMed )
Supplement: 41598_2017_2655_MOESM2_ESM.xls › Combined__Use_
From Genotype to Phenotype: Nonsense Variants in SLC13A1 Are Associated with Decreased Serum Sulfate and Increased Serum Aminotransferases.
Tise CG et al.
G3 (bethesda, Md.), 2016
27412988 (PubMed )
Supplement: supp_g3.116.032979_TableS4.pdf
CIITA or RFX coding region loss of function mutations occur rarely in diffuse large B-cell lymphoma cases and cell lines with low levels of major histocompatibility complex class II expression.
Rimsza LM et al.
Haematologica, 2009
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