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Q37220682-0879F9FD-C976-42A0-BDF6-96D39DC1AAFC
Q37220682-0879F9FD-C976-42A0-BDF6-96D39DC1AAFC
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http://www.wikidata.org/entity/statement/Q37220682-0879F9FD-C976-42A0-BDF6-96D39DC1AAFC
Exome sequencing identification of a GJB1 missense mutation in a kindred with X-linked spinocerebellar ataxia (SCA-X1).
P2860
Q37220682-0879F9FD-C976-42A0-BDF6-96D39DC1AAFC
BestRank
Statement
http://www.wikidata.org/entity/statement/Q37220682-0879F9FD-C976-42A0-BDF6-96D39DC1AAFC
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wasDerivedFrom
d259d08e23762266a62cfd3c4fd95cf80aec4f1c
P2860
Functional requirement for a highly conserved charged residue at position 75 in the gap junction protein connexin 32.