Publications:

A data-driven architecture using natural language processing to improve phenotyping efficiency and accelerate genetic diagnoses of rare disorders.

Hgg Advances

Parikh, Jignesh R JR; Genetti, Casie A CA; Aykanat, Asli A; Brownstein, Catherine A CA; Schmitz-Abe, Klaus K; Danowski, Morgan M; Quitadomo, Andrew A; Madden, Jill A JA; Yacoubian, Calum C; Gain, Richard R; Williams, Tessa T; Meskell, Mary M; Brown, Andrew A; Frith, Alison A; Rockowitz, Shira S; Sliz, Piotr P; Agrawal, Pankaj B PB; Defay, Thomas T; McDonagh, Paul P; Reynders, John J; Lefebvre, Sebastien S; Beggs, Alan H AH

Publication Date: 2021-07

Variant appearance in text: LONP1: 2536G>A; Glu846Lys

PubMed Link: 34514437

Variant Present in the following documents:

• mmc2.xlsx, sheet 1

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