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- NCIT_C200409 IAO_0000115 "Human SETD1A wild-type allele is located in the vicinity of 16p11.2 and is approximately 27 kb in length. This allele, which encodes histone-lysine N-methyltransferase SETD1A protein, is involved in chromatin remodeling through methylation of histone H3. Mutation of the gene is associated with early onset epilepsy with or without developmental delay and neurodevelopmental disorder with speech impairment and dysmorphic facies." @default.
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- NCIT_C200409 NCIT_P108 "SETD1A wt Allele" @default.
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- NCIT_C200409 hasExactSynonym "EPEDD" @default.
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- NCIT_C200409 hasExactSynonym "NEDSID" @default.
- NCIT_C200409 hasExactSynonym "SET Domain Containing 1A Gene" @default.
- NCIT_C200409 hasExactSynonym "SET Domain Containing 1A, Histone Lysine Methyltransferase wt Allele" @default.
- NCIT_C200409 hasExactSynonym "SET1" @default.
- NCIT_C200409 hasExactSynonym "SET1A" @default.
- NCIT_C200409 hasExactSynonym "SETD1A wt Allele" @default.
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