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- source_evidence_literature type ECO_0000212 NP501767.RAN__j9V66f8yIzcw8-sfmzd3s7jJbtyL9XpycXDPDbW0130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP501767.RAN__j9V66f8yIzcw8-sfmzd3s7jJbtyL9XpycXDPDbW0130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP501767.RAN__j9V66f8yIzcw8-sfmzd3s7jJbtyL9XpycXDPDbW0130_provenance.
- NP501767.RAN__j9V66f8yIzcw8-sfmzd3s7jJbtyL9XpycXDPDbW0130_assertion description "[Analysis of affected families allowed narrowing of the candidate region on chromosome 15q22.31, and mutation screening led to the identification of a previously uncharacterized gene, KBTBD13, coding for a hypothetical protein and containing missense mutations that perfectly cosegregate with nemaline myopathy in the studied families.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP501767.RAN__j9V66f8yIzcw8-sfmzd3s7jJbtyL9XpycXDPDbW0130_provenance.
- NP501767.RAN__j9V66f8yIzcw8-sfmzd3s7jJbtyL9XpycXDPDbW0130_assertion evidence source_evidence_literature NP501767.RAN__j9V66f8yIzcw8-sfmzd3s7jJbtyL9XpycXDPDbW0130_provenance.
- NP501767.RAN__j9V66f8yIzcw8-sfmzd3s7jJbtyL9XpycXDPDbW0130_assertion SIO_000772 21109227 NP501767.RAN__j9V66f8yIzcw8-sfmzd3s7jJbtyL9XpycXDPDbW0130_provenance.
- NP501767.RAN__j9V66f8yIzcw8-sfmzd3s7jJbtyL9XpycXDPDbW0130_assertion wasDerivedFrom befree-20140225 NP501767.RAN__j9V66f8yIzcw8-sfmzd3s7jJbtyL9XpycXDPDbW0130_provenance.
- NP501767.RAN__j9V66f8yIzcw8-sfmzd3s7jJbtyL9XpycXDPDbW0130_assertion wasGeneratedBy ECO_0000203 NP501767.RAN__j9V66f8yIzcw8-sfmzd3s7jJbtyL9XpycXDPDbW0130_provenance.
- befree-20140225 importedOn "2014-02-25" NP501767.RAN__j9V66f8yIzcw8-sfmzd3s7jJbtyL9XpycXDPDbW0130_provenance.