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Q37060023-0B0C8B9C-7A19-41DB-9029-1E4F9D4894E3
Q37060023-0B0C8B9C-7A19-41DB-9029-1E4F9D4894E3
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http://www.wikidata.org/entity/statement/Q37060023-0B0C8B9C-7A19-41DB-9029-1E4F9D4894E3
A synonymous change, p.Gly16Gly in MECP2 Exon 1, causes a cryptic splice event in a Rett syndrome patient.
P2860
Q37060023-0B0C8B9C-7A19-41DB-9029-1E4F9D4894E3
BestRank
Statement
http://www.wikidata.org/entity/statement/Q37060023-0B0C8B9C-7A19-41DB-9029-1E4F9D4894E3
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wasDerivedFrom
f7b85e043558b0b43cdba4e14ccbd6f4fe1aa00d
P2860
Methyl CpG-binding protein isoform MeCP2_e2 is dispensable for Rett syndrome phenotypes but essential for embryo viability and placenta development.