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Q37220682-F3E68991-76E4-4029-95FC-2B31051592FB
Q37220682-F3E68991-76E4-4029-95FC-2B31051592FB
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http://www.wikidata.org/entity/statement/Q37220682-F3E68991-76E4-4029-95FC-2B31051592FB
Exome sequencing identification of a GJB1 missense mutation in a kindred with X-linked spinocerebellar ataxia (SCA-X1).
P2860
Q37220682-F3E68991-76E4-4029-95FC-2B31051592FB
BestRank
Statement
http://www.wikidata.org/entity/statement/Q37220682-F3E68991-76E4-4029-95FC-2B31051592FB
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wasDerivedFrom
d259d08e23762266a62cfd3c4fd95cf80aec4f1c
P2860
Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases