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Q46317492-9628CA64-C20B-4213-93F6-C5AC65518C31
Q46317492-9628CA64-C20B-4213-93F6-C5AC65518C31
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http://www.wikidata.org/entity/statement/Q46317492-9628CA64-C20B-4213-93F6-C5AC65518C31
A recurrent de novo mutation in TMEM106B causes hypomyelinating leukodystrophy.
P2860
Q46317492-9628CA64-C20B-4213-93F6-C5AC65518C31
BestRank
Statement
http://www.wikidata.org/entity/statement/Q46317492-9628CA64-C20B-4213-93F6-C5AC65518C31
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wasDerivedFrom
f2b76dbcddc6b142c5a7b3fae272e04f07c9c22d
P2860
The second report of a new hypomyelinating disease due to a defect in the VPS11 gene discloses a massive lysosomal involvement