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Pedigree charts indicating the segregation of heterozygous variants in family 1 (upper) and family 2 (lower). In family 1, the family members I2, II9 and Ⅲ7 carried the c.1194-9A>G variant (V1). In family 2, the family members I1, II7, Ⅲ5 and Ⅲ8 carried the c.632+4A>G variant (V3), and I1, Ⅲ2 and Ⅲ9 carried the c.1468C>T (p.Arg490Trp) variant (V4). F1, family 1; F2, family 2.
