Associated Papers
The mutation spectrum and ethnic distribution of non-hepatorenal tyrosinemia (types II, III).
Beyzaei Z et al.
Orphanet Journal of Rare Diseases, 2022
An Infant with Bilateral Keratitis: From Infectious to Genetic Diagnosis.
Thibault LP et al.
The American Journal of Case Reports, 2022
Transitioning the Molecular Tumor Board from Proof of Concept to Clinical Routine: A German Single-Center Analysis.
Hoefflin R et al.
Cancers, 2021
33800365 (PubMed )
Supplement: cancers-13-01151-s001.zip › Supplementary_Data_2.xlsx › Cosmic_Annotated_Mutations
Tyrosinemia type II: Mutation update, 11 novel mutations and description of 5 independent subjects with a novel founder mutation.
Peña-Quintana L et al.
Clinical Genetics, 2017
Colorectal adenomas contain multiple somatic mutations that do not coincide with synchronous adenocarcinoma specimens.
Vaqué JP et al.
Plos One, 2015
25775023 (PubMed )
Supplement: pone.0119946.s007.xls › Hoja5
Molecular defects in Sanfilippo syndrome type B (mucopolysaccharidosis IIIB).
Beesley CE et al.
Journal of Inherited Metabolic Disease, 2005
Association of erosive hand osteoarthritis with a single nucleotide polymorphism on the gene encoding interleukin-1 beta.
Stern AG et al.
Osteoarthritis and Cartilage, 2003
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