Delineating the Smith-Kingsmore syndrome phenotype

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Delineating the Smith-Kingsmore syndrome phenotype: Investigation of 16 patients with the MTOR c.5395G > A p.(Glu1799Lys) missense variant.

Poole RL, Curry PDK, Marcinkute R, Brewer C, Coman D, Hobson E, Johnson D, Lynch SA, Saggar A, Searle C,

Scurr I, Turnpenny PD, Vasudevan P, Tatton-Brown K.

Am J Med Genet A. 2021 Aug;185(8):2445-2454. doi: 10.1002/ajmg.a.62350. Epub 2021 May 25.

PMID: 34032352

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