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Q24295137-A9B4A46D-7612-4035-85E0-D6E4D0F1D3E8
Q24295137-A9B4A46D-7612-4035-85E0-D6E4D0F1D3E8
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http://www.wikidata.org/entity/statement/Q24295137-A9B4A46D-7612-4035-85E0-D6E4D0F1D3E8
A novel recessive hyperekplexia allele GLRA1 (S231R): genotyping by MALDI-TOF mass spectrometry and functional characterisation as a determinant of cellular glycine receptor trafficking
P2860
Q24295137-A9B4A46D-7612-4035-85E0-D6E4D0F1D3E8
BestRank
Statement
http://www.wikidata.org/entity/statement/Q24295137-A9B4A46D-7612-4035-85E0-D6E4D0F1D3E8
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Statement
wasDerivedFrom
811849faa32c1305e3f67872e6818bb24ca70139
P2860
Evidence for recessive as well as dominant forms of startle disease (hyperekplexia) caused by mutations in the alpha 1 subunit of the inhibitory glycine receptor