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NGS analysis pipeline and filtering. Abbreviations: P1 = Patient 1; P2 = Patient 2; MAF = Minor Allele Frequency; HMZ = homozygous; HTZ = heterozygous; CPHD = Combined Pituitary Hormone Deficiency, IGHD = Isolated Growth Hormone Deficiency, HH = Hypogonadotropic Hypogonadism, HPE = Holoprosencephaly.
