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Pedigrees from Families Affected by TTLL5-Related Retinal Disease
The probands are subject CD1 (IV1, family gc1872; p.[Glu529Valfs∗2];[Glu529Valfs∗2]), subject CD2 (IV:6, family gc19552; p.[Leu134Argfs∗45(;)Trp1118∗]), subject CD3 (III:4, family gc16138; p.[Glu543∗];[Glu543∗]), and subject CD5 (II:1, family gc19420; p.[Glu543Lys];[Glu543Lys]). Interestingly, heterozygous variants were detected in subject CD2 despite his being born to consanguineous parents.
