Publications:

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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: V209M

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 3

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Identification of Prion Disease-Related Somatic Mutations in the Prion Protein Gene (PRNP) in Cancer Patients.

Cells

Kim, Yong-Chan YC; Won, Sae-Young SY; Jeong, Byung-Hoon BH

Publication Date: 2020-06-17

Variant appearance in text: PRNP: V209M

PubMed Link: 32560489

Variant Present in the following documents:

• Main text
• cells-09-01480.pdf

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Structural basis for the complete resistance of the human prion protein mutant G127V to prion disease.

Scientific Reports

Zheng, Zhen Z; Zhang, Meilan M; Wang, Yongheng Y; Ma, Rongsheng R; Guo, Chenyun C; Feng, Liubin L; Wu, Jihui J; Yao, Hongwei H; Lin, Donghai D

Publication Date: 2018-09-04

Variant appearance in text: CJD: V209M

PubMed Link: 30181558

Variant Present in the following documents:

• Main text
• 41598_2018_Article_31394.pdf

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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: V209M

PubMed Link: 29861043

Variant Present in the following documents:

• Main text

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Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine

Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L

Publication Date: 2014-12

Variant appearance in text: PRNP: V209M

PubMed Link: 25326804

Variant Present in the following documents:

• NIHMS630249-supplement-6.xlsx, sheet 1

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Probing early misfolding events in prion protein mutants by NMR spectroscopy.

Molecules (Basel, Switzerland)

Giachin, Gabriele G; Biljan, Ivana I; Ilc, Gregor G; Plavec, Janez J; Legname, Giuseppe G

Publication Date: 2013-08-07

Variant appearance in text: PRNP: V209M

PubMed Link: 23966072

Variant Present in the following documents:

• Main text
• molecules-18-09451.pdf

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Thermodynamic stabilization of the folded domain of prion protein inhibits prion infection in vivo.

Cell Reports

Kong, Qingzhong Q; Mills, Jeffrey L JL; Kundu, Bishwajit B; Li, Xinyi X; Qing, Liuting L; Surewicz, Krystyna K; Cali, Ignazio I; Huang, Shenghai S; Zheng, Mengjie M; Swietnicki, Wieslaw W; Sönnichsen, Frank D FD; Gambetti, Pierluigi P; Surewicz, Witold K WK

Publication Date: 2013-07-25

Variant appearance in text: CJD: V209M

PubMed Link: 23871665

Variant Present in the following documents:

• Main text

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