Publications:

Progressive myoclonus epilepsies-Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes.

American Journal Of Human Genetics

Courage, Carolina C; Oliver, Karen L KL; Park, Eon Joo EJ; Cameron, Jillian M JM; Grabińska, Kariona A KA; Muona, Mikko M; Canafoglia, Laura L; Gambardella, Antonio A; Said, Edith E; Afawi, Zaid Z; Baykan, Betul B; Brandt, Christian C; di Bonaventura, Carlo C; Chew, Hui Bein HB; Criscuolo, Chiara C; Dibbens, Leanne M LM; Castellotti, Barbara B; Riguzzi, Patrizia P; Labate, Angelo A; Filla, Alessandro A; Giallonardo, Anna T AT; Berecki, Geza G; Jackson, Christopher B CB; Joensuu, Tarja T; Damiano, John A JA; Kivity, Sara S; Korczyn, Amos A; Palotie, Aarno A; Striano, Pasquale P; Uccellini, Davide D; Giuliano, Loretta L; Andermann, Eva E; Scheffer, Ingrid E IE; Michelucci, Roberto R; Bahlo, Melanie M; Franceschetti, Silvana S; Sessa, William C WC; Berkovic, Samuel F SF; Lehesjoki, Anna-Elina AE

Publication Date: 2021-04-01

Variant appearance in text: PEX19: 254C>T; Ala85Val

PubMed Link: 33798445

Variant Present in the following documents:

• Main text

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DaT Scan "Abnormality" in Hyperglycemic-Hemichorea.

Tremor And Other Hyperkinetic Movements (New York, N.Y.)

Doher, Nicholas N; Gupta, Harsh V HV

Publication Date: 2019

Variant appearance in text: PEX19: A85V; rs11550119

PubMed Link: 31824748

Variant Present in the following documents:

• tre-09-739-s003.xlsx, sheet 3

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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: PEX19: 254C>T; A85V; rs11550119

PubMed Link: 31515488

Variant Present in the following documents:

• 41467_2019_11959_MOESM11_ESM.xlsx, sheet 1
• 41467_2019_11959_MOESM6_ESM.xlsx, sheet 1

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Whole-exon sequencing of human myeloma cell lines shows mutations related to myeloma patients at relapse with major hits in the DNA regulation and repair pathways.

Journal Of Hematology & Oncology

Tessoulin, Benoît B; Moreau-Aubry, Agnès A; Descamps, Géraldine G; Gomez-Bougie, Patricia P; Maïga, Sophie S; Gaignard, Alban A; Chiron, David D; Ménoret, Emmanuelle E; Le Gouill, Steven S; Moreau, Philippe P; Amiot, Martine M; Pellat-Deceunynck, Catherine C

Publication Date: 2018-12-13

Variant appearance in text: PEX19: 254C>T; A85V; rs11550119

PubMed Link: 30545397

Variant Present in the following documents:

• 13045_2018_679_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports

Wang, Meng M; Wei, Liping L

Publication Date: 2016-08-16

Variant appearance in text: PEX19: A85V

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s3.xls, sheet 1

View BVdb publication page