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. 2020 Oct 26;130(12):6379–6394. doi: 10.1172/JCI94171

Figure 1. Missense variant in the WNK1 acidic motif in the FHHt pedigree 29.

Figure 1

(A) Kindred 29: family affected by FHHt composed of 7 affected (black) and 6 unaffected (white) members. Arrow indicates the index case. Asterisks indicate exome-sequenced individuals. (B) Electrophoregram obtained by Sanger sequencing showing the double-peak A/T corresponding to the WNK1 heterozygous mutation (c.1905T>A; P.Asp635Glu).