<i>De novo</i> variants in <i>MAST4</i> related to neurodevelopmental disorders with developmental delay and infantile spasms: Genotype-phenotype association.

Similarly, integrated de novo missense events had more pathogenic components predicted by SIFT and Polyphen in contrast to private missense variants in gnomAD non-neuro subset (SITF: P = 0.056; Polyphen: P = 0.005747), even if P -value in SIFT was close to significance ( Figure 1F ).

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