Bar Plot from Scientific Research

Zoomed-in view of the SMARCA4 ATPase subunit within the cBAF complex (PDB:6LTJ) at its interface with the nucleosome (left). Mutations in SMARCA4 are indicated in red; mutations in SMARCA2 are indicated in blue, shared mapped in purple. ATP binding pocket is highlighted in yellow. NDD-associated missense and inframeshift variants in SMARCA4 and SMARCA2, ranked by frequency, filtered for recurrence of n ≥ 2 by position (right). Novel SMARCA4 cases reported in this study shown in red bar chart.

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