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Q47190201-E66E65CA-4201-40BA-9983-670D2042E683
Q47190201-E66E65CA-4201-40BA-9983-670D2042E683
BestRank
Statement
http://www.wikidata.org/entity/statement/Q47190201-E66E65CA-4201-40BA-9983-670D2042E683
CHCHD10 mutations p.R15L and p.G66V cause motoneuron disease by haploinsufficiency.
P2860
Q47190201-E66E65CA-4201-40BA-9983-670D2042E683
BestRank
Statement
http://www.wikidata.org/entity/statement/Q47190201-E66E65CA-4201-40BA-9983-670D2042E683
rank
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Statement
wasDerivedFrom
33bb1aeac69c4ba6272ee9b1749ca2e523d6727a
P2860
A distinct clinical phenotype in a German kindred with motor neuron disease carrying a CHCHD10 mutation.