PMC6974581_01
Genetic evaluation. (A) Pedigree: II:1 corresponds to proband, II:2 and II:3 to the asymptomatic carrier brother and sister. (B) Co-segregation analysis of NM_007254.3:c.[148C>G]; NP_009185.2: p. (Gln50Glu) (rs756746191:C>G) (Clin Var Accession Number SUB6349616) in exon 2 of gene PNKP (OMIM #605610). Sequence analysis is shown for proband (II:1) who is homozygous for variant and brother (II:2) and his sister (II:3) who is heterozygous carrier of the same variant.
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F1