Matches in Nanopublications for { ?s ?p "[The proband suffered from autism, mental retardation, and epilepsy and on genotyping it was revealed that he carried a compound heterozygous mutation in the NRXN1 consisting of a 451 kb deletion, affecting the promoter and first introns in addition to a point mutation, predicted to be deleterious to NRXN1.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ?g. }
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- NP206392.RAjbsBPDTbBHq6_08pGI-1ra7iEnVdLr8iTacszwdc6fs130_assertion description "[The proband suffered from autism, mental retardation, and epilepsy and on genotyping it was revealed that he carried a compound heterozygous mutation in the NRXN1 consisting of a 451 kb deletion, affecting the promoter and first introns in addition to a point mutation, predicted to be deleterious to NRXN1.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP206392.RAjbsBPDTbBHq6_08pGI-1ra7iEnVdLr8iTacszwdc6fs130_provenance.