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- source_evidence_literature type ECO_0000212 NP257186.RAzFwhgUeZil-tJ_0hjc8NHdWe35Z7u-ZNyPA0iqiwAYI130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP257186.RAzFwhgUeZil-tJ_0hjc8NHdWe35Z7u-ZNyPA0iqiwAYI130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP257186.RAzFwhgUeZil-tJ_0hjc8NHdWe35Z7u-ZNyPA0iqiwAYI130_provenance.
- befree-2016 importedOn "2016-02-19" NP257186.RAzFwhgUeZil-tJ_0hjc8NHdWe35Z7u-ZNyPA0iqiwAYI130_provenance.
- NP257186.RAzFwhgUeZil-tJ_0hjc8NHdWe35Z7u-ZNyPA0iqiwAYI130_assertion wasGeneratedBy ECO_0000203 NP257186.RAzFwhgUeZil-tJ_0hjc8NHdWe35Z7u-ZNyPA0iqiwAYI130_provenance.
- NP257186.RAzFwhgUeZil-tJ_0hjc8NHdWe35Z7u-ZNyPA0iqiwAYI130_assertion wasDerivedFrom befree-2016 NP257186.RAzFwhgUeZil-tJ_0hjc8NHdWe35Z7u-ZNyPA0iqiwAYI130_provenance.
- NP257186.RAzFwhgUeZil-tJ_0hjc8NHdWe35Z7u-ZNyPA0iqiwAYI130_assertion SIO_000772 10399872 NP257186.RAzFwhgUeZil-tJ_0hjc8NHdWe35Z7u-ZNyPA0iqiwAYI130_provenance.
- NP257186.RAzFwhgUeZil-tJ_0hjc8NHdWe35Z7u-ZNyPA0iqiwAYI130_assertion evidence source_evidence_literature NP257186.RAzFwhgUeZil-tJ_0hjc8NHdWe35Z7u-ZNyPA0iqiwAYI130_provenance.
- NP257186.RAzFwhgUeZil-tJ_0hjc8NHdWe35Z7u-ZNyPA0iqiwAYI130_assertion description "[We clinically and genetically evaluated 73 Italian families with autosomal dominant cerebellar ataxia (ADCA) type I. Spinocerebellar ataxia (SCA) type 1 was the most common genotype (SCA1), accounting for 41% of cases (30 families), SCA2 was slightly less frequent (29%, 21 families), and the remaining families were negative for the SCA1, SCA2, and SCA3 mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP257186.RAzFwhgUeZil-tJ_0hjc8NHdWe35Z7u-ZNyPA0iqiwAYI130_provenance.