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Q41919422-47CCB833-1190-4BF9-9460-6C7083048B84
Q41919422-47CCB833-1190-4BF9-9460-6C7083048B84
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Statement
http://www.wikidata.org/entity/statement/Q41919422-47CCB833-1190-4BF9-9460-6C7083048B84
A homozygous founder mutation in TRAPPC6B associates with a neurodevelopmental disorder characterised by microcephaly, epilepsy and autistic features.
P2860
Q41919422-47CCB833-1190-4BF9-9460-6C7083048B84
BestRank
Statement
http://www.wikidata.org/entity/statement/Q41919422-47CCB833-1190-4BF9-9460-6C7083048B84
rank
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type
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wasDerivedFrom
362164b1794d1484dd886f7eb759441ad9dead80
P2860
Trafficking protein particle complex 6A delta (TRAPPC6AΔ) is an extracellular plaque-forming protein in the brain.