Publications:

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Hornerin deposits in neuronal intranuclear inclusion disease: direct identification of proteins with compositionally biased regions in inclusions.

Acta Neuropathologica Communications

Park, Hongsun H; Yamanaka, Tomoyuki T; Toyama, Yumiko Y; Fujita, Atsushi A; Doi, Hiroshi H; Nirasawa, Takashi T; Murayama, Shigeo S; Matsumoto, Naomichi N; Shimogori, Tomomi T; Ikegawa, Masaya M; Haltia, Matti J MJ; Nukina, Nobuyuki N

Publication Date: 2022-03-04

Variant appearance in text: TSGA10IP: Arg303Gln

PubMed Link: 35246273

Variant Present in the following documents:

• 40478_2022_1333_MOESM3_ESM.xlsx, sheet 1
• 40478_2022_1333_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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Revisiting the Population Genetics of Human Height.

Journal Of The Endocrine Society

Rotwein, Peter P

Publication Date: 2020-04-01

Variant appearance in text: TSGA10IP: R303Q; rs71455793

PubMed Link: 32232182

Variant Present in the following documents:

• Main text

View BVdb publication page

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Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.

Nature Communications

Fragoza, Robert R; Das, Jishnu J; Wierbowski, Shayne D SD; Liang, Jin J; Tran, Tina N TN; Liang, Siqi S; Beltran, Juan F JF; Rivera-Erick, Christen A CA; Ye, Kaixiong K; Wang, Ting-Yi TY; Yao, Li L; Mort, Matthew M; Stenson, Peter D PD; Cooper, David N DN; Wei, Xiaomu X; Keinan, Alon A; Schimenti, John C JC; Clark, Andrew G AG; Yu, Haiyuan H

Publication Date: 2019-09-12

Variant appearance in text: TSGA10IP: 908G>A; R303Q; rs71455793

PubMed Link: 31515488

Variant Present in the following documents:

• 41467_2019_11959_MOESM11_ESM.xlsx, sheet 1

View BVdb publication page

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A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.

Scientific Reports

Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW

Publication Date: 2019-03-20

Variant appearance in text: TSGA10IP: R303Q; rs71455793

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 4

View BVdb publication page

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Delineation of dominant and recessive forms of LZTR1-associated Noonan syndrome.

Clinical Genetics

Pagnamenta, Alistair T AT; Kaisaki, Pamela J PJ; Bennett, Fenella F; Burkitt-Wright, Emma E; Martin, Hilary C HC; Ferla, Matteo P MP; Taylor, John M JM; Gompertz, Lianne L; Lahiri, Nayana N; Tatton-Brown, Katrina K; Newbury-Ecob, Ruth R; Henderson, Alex A; Joss, Shelagh S; Weber, Astrid A; Carmichael, Jenny J; Turnpenny, Peter D PD; McKee, Shane S; Forzano, Francesca F; Ashraf, Tazeen T; Bradbury, Kimberley K; Shears, Deborah D; Kini, Usha U; de Burca, Anna A; , ; Blair, Edward E; Taylor, Jenny C JC; Stewart, Helen H

Publication Date: 2019-06

Variant appearance in text: TSGA10IP: 908G>A; R303Q; rs71455793

PubMed Link: 30859559

Variant Present in the following documents:

• CGE-95-693-s001.pdf

View BVdb publication page

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Molecular analysis of urothelial cancer cell lines for modeling tumor biology and drug response.

Oncogene

Nickerson, M L ML; Witte, N N; Im, K M KM; Turan, S S; Owens, C C; Misner, K K; Tsang, S X SX; Cai, Z Z; Wu, S S; Dean, M M; Costello, J C JC; Theodorescu, D D

Publication Date: 2017-01-05

Variant appearance in text: TSGA10IP: R303Q; rs71455793

PubMed Link: 27270441

Variant Present in the following documents:

• onc2016172x3.xls, sheet 3

View BVdb publication page

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