Publications:

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Genomic, transcriptomic, and metabolomic profiles of hiPSC-derived dopamine neurons from clinically discordant brothers with identical PRKN deletions.

Npj Parkinson'S Disease

Cukier, Holly N HN; Kim, Hyunjin H; Griswold, Anthony J AJ; Codreanu, Simona G SG; Prince, Lisa M LM; Sherrod, Stacy D SD; McLean, John A JA; Dykxhoorn, Derek M DM; Ess, Kevin C KC; Hedera, Peter P; Bowman, Aaron B AB; Neely, M Diana MD

Publication Date: 2022-06-29

Variant appearance in text: rs6780013

PubMed Link: 35768426

Variant Present in the following documents:

• 41531_2022_346_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease

Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D

Publication Date: 2019-02-27

Variant appearance in text: rs6780013

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1

View BVdb publication page

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Differences in clinical characteristics and mutational pattern between synchronous and metachronous colorectal liver metastases.

Cancer Management And Research

Zheng, Peng P; Ren, Li L; Feng, Qingyang Q; Zhu, Dexiang D; Chang, Wenju W; He, Guodong G; Ji, Meiling M; Jian, Mi M; Lin, Qi Q; Yi, Tuo T; Wei, Ye Y; Xu, Jianmin J

Publication Date: 2018

Variant appearance in text: rs6780013

PubMed Link: 30214282

Variant Present in the following documents:

• Main text
• cmar-10-2871.pdf

View BVdb publication page

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Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation

Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H

Publication Date: 2017

Variant appearance in text: rs6780013

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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SETD2 and histone H3 lysine 36 methylation deficiency in advanced systemic mastocytosis.

Leukemia

Martinelli, G G; Mancini, M M; De Benedittis, C C; Rondoni, M M; Papayannidis, C C; Manfrini, M M; Meggendorfer, M M; Calogero, R R; Guadagnuolo, V V; Fontana, M C MC; Bavaro, L L; Padella, A A; Zago, E E; Pagano, L L; Zanotti, R R; Scaffidi, L L; Specchia, G G; Albano, F F; Merante, S S; Elena, C C; Savini, P P; Gangemi, D D; Tosi, P P; Ciceri, F F; Poletti, G G; Riccioni, L L; Morigi, F F; Delledonne, M M; Haferlach, T T; Cavo, M M; Valent, P P; Soverini, S S

Publication Date: 2018-01

Variant appearance in text: rs6780013

PubMed Link: 28663576

Variant Present in the following documents:

• Main text
• leu2017183a.pdf

View BVdb publication page

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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: rs6780013

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics

Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z

Publication Date: 2013

Variant appearance in text: rs6780013

PubMed Link: 23819521

Variant Present in the following documents:

• 1471-2164-14-S3-S7-S1.xlsx, sheet 2

View BVdb publication page

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