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: PRNP: T201S

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 3

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Evaluating the causality of novel sequence variants in the prion protein gene by example.

Neurobiology Of Aging

Mok, Tze How TH; Koriath, Carolin C; Jaunmuktane, Zane Z; Campbell, Tracy T; Joiner, Susan S; Wadsworth, Jonathan D F JDF; Hosszu, Laszlo L P LLP; Brandner, Sebastian S; Parvez, Ambereen A; Truelsen, Thomas Clement TC; Lund, Eva Løbner EL; Saha, Romi R; Collinge, John J; Mead, Simon S

Publication Date: 2018-11

Variant appearance in text: PRNP: 602C>G

PubMed Link: 29861043

Variant Present in the following documents:

• Main text

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