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Q41694710-85ED6628-B8B8-46D7-A843-9EA930EAEA53
Q41694710-85ED6628-B8B8-46D7-A843-9EA930EAEA53
BestRank
Statement
http://www.wikidata.org/entity/statement/Q41694710-85ED6628-B8B8-46D7-A843-9EA930EAEA53
Homozygous mutation of STXBP5L explains an autosomal recessive infantile-onset neurodegenerative disorder.
P2860
Q41694710-85ED6628-B8B8-46D7-A843-9EA930EAEA53
BestRank
Statement
http://www.wikidata.org/entity/statement/Q41694710-85ED6628-B8B8-46D7-A843-9EA930EAEA53
rank
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Statement
wasDerivedFrom
119fecf5945400186e5511b790902460bae488cc
P2860
Transcriptome profiling of UPF3B/NMD-deficient lymphoblastoid cells from patients with various forms of intellectual disability.