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In addition to various barriers that restrict the entry of several substances across the brain, some other provisions are present in the highly selective semipermeable membrane which help the transport of necessary materials in the brain, like the polar or hydrophilic components via the paracellular pathway, whereas small lipophilic substances are carried through transcellular pathway [157]

Merimee TJ, Rabinowitz D, Riggs L, Burgess JA, Rimoin DL, McKusick VA

When routinely using NGS with targeted gene panels, one needs to be aware that although this method identifies numerous variations, the results may not be conclusive because the pathogenic gene might not be present in the commercially available panels

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