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Q34789789-7543A436-D510-4FFD-84ED-872A357E223F
Q34789789-7543A436-D510-4FFD-84ED-872A357E223F
BestRank
Statement
http://www.wikidata.org/entity/statement/Q34789789-7543A436-D510-4FFD-84ED-872A357E223F
Nonsense-mediated mRNA decay and loss-of-function of the protein underlie the X-linked epilepsy associated with the W356× mutation in synapsin I.
P2860
Q34789789-7543A436-D510-4FFD-84ED-872A357E223F
BestRank
Statement
http://www.wikidata.org/entity/statement/Q34789789-7543A436-D510-4FFD-84ED-872A357E223F
rank
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type
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wasDerivedFrom
210905ff88261ed69e81d2259e36f2f8d48274e6
P2860
SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic function.