{{Rsnum
|rsid=386833843
|Chromosome=8
|position=144515324
|Orientation=minus
|geno1=(-;-)
|geno2=(-;T)
|geno3=(T;T)
|Gene=RECQL4
|Gene_s=RECQL4
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Orientation=minus
}}{{ClinVar
|ALT=C
|CHROM=8
|CLNACC=RCV000049811.1
|CLNALLE=1
|CLNDBN=Rapadilino syndrome
|CLNDSDB=MedGen:OMIM:Orphanet
|CLNDSDBID=C1849453:266280:3021
|CLNHGVS=NC_000008.10:g.145740708delA
|CLNSIG=5
|Disease=Rapadilino syndrome
|FwdREF=T
|REF=CA
|RSPOS=145740707
|Reversed=1
|SAO=0
|SSR=0
|Tags=RV;PM;PMC;OTHERKG;LSD;OM
|VC=DIV
|VP=0x050068000000000002110200
|WGT=0
|dbSNPBuildID=137
|rsid=386833843
|GENEINFO=RECQL4:9401
|GENE_ID=9401
|GENE_NAME=RECQL4
}}{{PMID Auto
|PMID=12952869
|Title=Molecular defect of RAPADILINO syndrome expands the phenotype spectrum of RECQL diseases.
}}

{{PMID Auto
|PMID=18716613
|Title=The mutation spectrum in RECQL4 diseases.
|OA=1
}}