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Electropherograms of the identified NEDD4L missense variant (highlighted by pink boxes) in the family: father (a, forward‐, reverse‐, and confirmation reverse‐primer), index case (b, reverse primer), mother (c, reverse primer). Note low‐level mosaicism for the c.2035T>C (p.Tyr679His) as detected by Sanger sequencing. (d) Percentage of wild‐type and mutant alleles in different tissues of the father by high‐coverage nanopore sequencing
