Publications:

Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports

Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA

Publication Date: 2020-09-21

Variant appearance in text: F8: T2291I

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 3

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Novel approach to genetic analysis and results in 3000 hemophilia patients enrolled in the My Life, Our Future initiative.

Blood Advances

Johnsen, Jill M JM; Fletcher, Shelley N SN; Huston, Haley H; Roberge, Sarah S; Martin, Beth K BK; Kircher, Martin M; Josephson, Neil C NC; Shendure, Jay J; Ruuska, Sarah S; Koerper, Marion A MA; Morales, Jaime J; Pierce, Glenn F GF; Aschman, Diane J DJ; Konkle, Barbara A BA

Publication Date: 2017-05-23

Variant appearance in text: F8: Thr2291Ile

PubMed Link: 29296726

Variant Present in the following documents:

• Main text

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