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1 . Academic Journal
Recommendations for the classification of germline variants in the exonuclease domain of POLE and POLD1
저자
by
Pilar Mur
;
Julen Viana-Errasti
;
Sandra García-Mulero
;
Lorena Magraner-Pardo
;
Inés G. Muñoz
, et al.
소스
Genome Medicine, Vol 15, Iss 1, Pp 1-18 (2023)
Open Access (BioMed Central)
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Web of Science
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7 . Academic Journal
A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases
저자
by
Lorena Magraner-Pardo
;
Roman A. Laskowski
;
Tirso Pons
;
Janet M. Thornton
.
소스
Scientific Reports, Vol 11, Iss 1, Pp 1-17 (2021)
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6 . Academic Journal
Geleophysic dysplasia: novel missense variants and insights into ADAMTSL2 intracellular trafficking
저자
by
Pasquale Piccolo
;
Valeria Sabatino
;
Pratibha Mithbaokar
;
Elena Polishchuck
;
Simon K. Law
, et al.
소스
Molecular Genetics and Metabolism Reports, Vol 21, Iss , Pp - (2019)
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7 . Academic Journal
Systematic Analysis of FASTK Gene Family Alterations in Cancer
저자
by
Lorena Magraner-Pardo
;
Dino Gobelli
;
Miguel A. de la Fuente
;
Tirso Pons
;
María Simarro
.
소스
International Journal of Molecular Sciences, Vol 22, Iss 21, p 11337 (2021)
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7 . Academic Journal
Comprehensive analysis of interacting proteins and genome-wide location studies of the Sas3-dependent NuA3 histone acetyltransferase complex
저자
by
Sara Vicente-Muñoz
;
Paco Romero
;
Lorena Magraner-Pardo
;
Celia P. Martinez-Jimenez
;
Vicente Tordera
, et al.
소스
FEBS Open Bio, Vol 4, Iss C, Pp 996-1006 (2014)
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7 .
Solving the enigma of POLD1 p.V295M as a potential cause of increased cancer risk
저자
by
Rebeca Sanz-Pamplona
;
Conxi Lázaro
;
Tirso Pons
;
Sandra García-Mulero
;
Laura Valle
, et al.
소스
Eur J Hum Genet
Open Access (OpenAIRE)
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7 .
Abstracts from the 54(th) European Society of Human Genetics (ESHG) Conference: e-Posters
저자
by
Pavel Lipilkin
;
Cristina Battaglia
;
Mehmet Fatih ORHAN
;
Hermina Jakupovic
;
Tirso Pons
, et al.
소스
Eur J Hum Genet
Open Access (OpenAIRE)
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7 .
Role of POLE and POLD1 in familial cancer
저자
by
Pau M. Munoz-Torres
;
Joan Brunet
;
Rebeca Sanz-Pamplona
;
August Vidal
;
Gemma Llort
, et al.
소스
Scientia
Genetics in Medicine
Digital.CSIC. Repositorio Institucional del CSIC
instname
Dipòsit Digital de la UB
Universidad de Barcelona
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7 .
Brain Radiotoxicity-Related 15CAcBRT Gene Expression Signature Predicts Survival Prognosis of Glioblastoma Patients
저자
by
Jesús Reyes-González
;
Francisco Barajas-Olmos
;
Humberto García-Ortiz
;
Lorena Magraner-Pardo
;
Tirso Pons
, et al.
소스
Neuro-oncology
.
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7 .
A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases and prostate cancer progression
저자
by
Tirso Pons
;
Lorena Magraner-Pardo
;
Janet M. Thornton
;
Roman A. Laskowski
.
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