Publications:

Contribution of CACNA1H Variants in Autism Spectrum Disorder Susceptibility.

Frontiers In Psychiatry

Viggiano, Marta M; D'Andrea, Tiziano T; Cameli, Cinzia C; Posar, Annio A; Visconti, Paola P; Scaduto, Maria Cristina MC; Colucci, Roberta R; Rochat, Magali J MJ; Ceroni, Fabiola F; Milazzo, Giorgio G; Fucile, Sergio S; Maestrini, Elena E; Bacchelli, Elena E

Publication Date: 2022

Variant appearance in text: ABCA7: Arg463Pro; rs3752233

PubMed Link: 35350424

Variant Present in the following documents:

• Data-Sheet_1.pdf

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Integrated genomics point to immune vulnerabilities in pleural mesothelioma.

Scientific Reports

Nastase, Anca A; Mandal, Amit A; Lu, Shir Kiong SK; Anbunathan, Hima H; Morris-Rosendahl, Deborah D; Zhang, Yu Zhi YZ; Sun, Xiao-Ming XM; Gennatas, Spyridon S; Rintoul, Robert C RC; Edwards, Matthew M; Bowman, Alex A; Chernova, Tatyana T; Benepal, Tim T; Lim, Eric E; Taylor, Anthony Newman AN; Nicholson, Andrew G AG; Popat, Sanjay S; Willis, Anne E AE; MacFarlane, Marion M; Lathrop, Mark M; Bowcock, Anne M AM; Moffatt, Miriam F MF; Cookson, William O C M WOCM

Publication Date: 2021-09-27

Variant appearance in text: ABCA7: 1388G>C; Arg463Pro; rs3752233

PubMed Link: 34580349

Variant Present in the following documents:

• 41598_2021_98414_MOESM2_ESM.xlsx, sheet 3

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Overlap between Parkinson disease and Alzheimer disease in ABCA7 functional variants.

Neurology. Genetics

Nuytemans, Karen K; Maldonado, Lizmarie L; Ali, Aleena A; John-Williams, Krista K; Beecham, Gary W GW; Martin, Eden E; Scott, William K WK; Vance, Jeffery M JM

Publication Date: 2016-02

Variant appearance in text: ABCA7: R463P

PubMed Link: 27066581

Variant Present in the following documents:

• NG2015001263.pdf

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: rs3752233

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One

Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y

Publication Date: 2014

Variant appearance in text: rs3752233

PubMed Link: 25032700

Variant Present in the following documents:

• pone.0101670.s004.xlsx, sheet 1

View BVdb publication page