Publications:

Vanishing white matter: Eukaryotic initiation factor 2B model and the impact of missense mutations.

Molecular Genetics & Genomic Medicine

Slynko, Inna I; Nguyen, Stephanie S; Hamilton, Eline M C EMC; Wisse, Lisanne E LE; de Esch, Iwan J P IJP; de Graaf, Chris C; Bruning, John B JB; Proud, Christopher G CG; Abbink, Truus E M TEM; van der Knaap, Marjo S MS

Publication Date: 2021-03

Variant appearance in text: F2: 512C>T

PubMed Link: 33432707

Variant Present in the following documents:

• MGG3-9-e1593-s001.pdf

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A missense in HSF2BP causing primary ovarian insufficiency affects meiotic recombination by its novel interactor C19ORF57/BRME1.

Elife

Felipe-Medina, Natalia N; Caburet, Sandrine S; Sánchez-Sáez, Fernando F; Condezo, Yazmine B YB; de Rooij, Dirk G DG; Gómez-H, Laura L; Garcia-Valiente, Rodrigo R; Todeschini, Anne Laure AL; Duque, Paloma P; Sánchez-Martin, Manuel Adolfo MA; Shalev, Stavit A SA; Llano, Elena E; Veitia, Reiner A RA; Pendás, Alberto M AM

Publication Date: 2020-08-26

Variant appearance in text: F2: 512C>T

PubMed Link: 32845237

Variant Present in the following documents:

• elife-56996.pdf

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Multi-region exome sequencing reveals genomic evolution from preneoplasia to lung adenocarcinoma.

Nature Communications

Hu, Xin X; Fujimoto, Junya J; Ying, Lisha L; Fukuoka, Junya J; Ashizawa, Kazuto K; Sun, Wenyong W; Reuben, Alexandre A; Chow, Chi-Wan CW; McGranahan, Nicholas N; Chen, Runzhe R; Hu, Jinlin J; Godoy, Myrna C MC; Tabata, Kazuhiro K; Kuroda, Kishio K; Shi, Lei L; Li, Jun J; Behrens, Carmen C; Parra, Edwin Roger ER; Little, Latasha D LD; Gumbs, Curtis C; Mao, Xizeng X; Song, Xingzhi X; Tippen, Samantha S; Thornton, Rebecca L RL; Kadara, Humam H; Scheet, Paul P; Roarty, Emily E; Ostrin, Edwin Justin EJ; Wang, Xu X; Carter, Brett W BW; Antonoff, Mara B MB; Zhang, Jianhua J; Vaporciyan, Ara A AA; Pass, Harvey H; Swisher, Stephen G SG; Heymach, John V JV; Lee, J Jack JJ; Wistuba, Ignacio I II; Hong, Waun Ki WK; Futreal, P Andrew PA; Su, Dan D; Zhang, Jianjun J

Publication Date: 2019-07-05

Variant appearance in text: F2: T171I

PubMed Link: 31278276

Variant Present in the following documents:

• 41467_2019_10877_MOESM4_ESM.xlsx, sheet 1

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Identification of essential amino acids for glucose transporter 5 (GLUT5)-mediated fructose transport.

The Journal Of Biological Chemistry

Ebert, Karolin K; Ewers, Maren M; Bisha, Ina I; Sander, Simone S; Rasputniac, Tanja T; Daniel, Hannelore H; Antes, Iris I; Witt, Heiko H

Publication Date: 2018-02-09

Variant appearance in text: F2: T171I

PubMed Link: 29259131

Variant Present in the following documents:

• Main text

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