ENAapplication/xmlftp://ftp.sra.ebi.ac.uk/vol1/fastq/SRR220/048/SRR22046048/SRR22046048_2.fastq.gzftp://ftp.sra.ebi.ac.uk/vol1/fastq/SRR220/048/SRR22046048/SRR22046048_1.fastq.gzprimaryOK200GenomicsBeijing Tongren Hospital, Capital Medical Universityhttps://www.ebi.ac.uk/ena/browser/view/PRJNA894466To exhibit unusual phenotypes of a novel PAX6 mutation.ENA1500038E17Rik, ALCOHOL DEHYDROGENASE, wagr, TAPETUM 1, pax6a, pax6b, Family Trees, Autistic behaviours, Asian, Genograms, Genealogical Tree, FVH1, East Asian, Tree, Far East, Identity, Identities, WAGR, Trees, Mutations, AEY11, mgda, an2, Gus, AN2, Gur, Gut, xpax6, TAPETUM1, AN, Autism spectrum disorders, Genealogic, MGDA, Eastern, Family Tree, East, East Asian Peoples, Asian People, Eastern Asian Peoples, AI747421, Sey, pax-6, Genetic, Autistic behaviors, D11S812E, ASD, Gus-u, Gus-t, Gus-s, Eastern Asian People, Gus-r, Atrial septal defect, pax6, Genogram, Genetic Identities, Genealogical Trees, Far East Asian, Genetic Identity, Genealogic Tree, East Asians, Genealogic Trees, Pax-6, Far East Asians, TA1, g, People, 3.1.6.-., Eastern Asians, Autism spectrum disorder, Gsfaey11, interatrial communication, asd, Eastern Asian, Dey, Chinese, Family, Genealogical, XLPAX6falseA novel mutation of PAX6 from a Chinese pedigree associated with FH and ASD2023-05-172022-11-05PRJNA894466