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Exome sequencing reveals a biallelic variant in the MBOAT1 gene. (a) Gene filter strategies. (b) Sanger sequencing was performed to validate the biallelic variant in the patient and his parents. The arrow shows the base at which the variation occurs. MBOAT1: membrane-bound O-acyltransferase domain-containing 1; SNV: single-nucleotide variation; Indels: insertion/deletion; SNP: single-nucleotide polymorphism; TYW1: tRNA-yW synthesizing protein 1 homolog.
