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The probands are indicated by arrows. Amino acid numbering is given below the protein structure. On the protein structure, the red arrows indicate variants seen in a recessive state, and the orange arrows indicate variants seen as a single heterozygous variant. HM, hydatidiform mole; CHM, complete HM; AnCHM, androgenetic CHM; F-ICSI, failed intracytoplasmic sperm injection.
