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Pedigrees
(A–C) Pedigrees and segregation of the c.637+1G>T (p.Phe164Serfs∗4) mutation in Iranian families Sh11 (A), Sh10 (B), and He (C).
(D) Sequencing results of the c.637+1G>T mutation. The affected individual sequenced with next-generation sequencing is indicated with an arrow. Nomenclature was based on NM_016366.2 and NP_057450.2.
