Publications:

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Glycated albumin as a diagnostic tool in diabetes: An alternative or an additional test?

Plos One

Chume, Fernando Chimela FC; Kieling, Mayana Hernandez MH; Correa Freitas, Priscila Aparecida PA; Cavagnolli, Gabriela G; Camargo, Joíza Lins JL

Publication Date: 2019

Variant appearance in text: ADA: A83D

PubMed Link: 31891628

Variant Present in the following documents:

• Main text

View BVdb publication page

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Computational Analysis of nsSNPs of ADA Gene in Severe Combined Immunodeficiency Using Molecular Modeling and Dynamics Simulation.

Journal Of Immunology Research

Essadssi, Soukaina S; Krami, Al Mehdi AM; Elkhattabi, Lamiae L; Elkarhat, Zouhair Z; Amalou, Ghita G; Abdelghaffar, Houria H; Rouba, Hassan H; Barakat, Abdelhamid A

Publication Date: 2019

Variant appearance in text: ADA: A83D; rs121908726

PubMed Link: 31781678

Variant Present in the following documents:

• 5902391.f1.pdf

View BVdb publication page

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Systematic analysis of the intersection of disease mutations with protein modifications.

Bmc Medical Genomics

Simpson, Claire M CM; Zhang, Bin B; Hornbeck, Peter V PV; Gnad, Florian F

Publication Date: 2019-07-25

Variant appearance in text: ADA: A83D

PubMed Link: 31345222

Variant Present in the following documents:

• 12920_2019_543_MOESM6_ESM.xlsx, sheet 3

View BVdb publication page

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A Systematic Review on Predisposition to Lymphoid (B and T cell) Neoplasias in Patients With Primary Immunodeficiencies and Immune Dysregulatory Disorders (Inborn Errors of Immunity).

Frontiers In Immunology

Riaz, Irbaz Bin IB; Faridi, Warda W; Patnaik, Mrinal M MM; Abraham, Roshini S RS

Publication Date: 2019

Variant appearance in text: ADA: A83D

PubMed Link: 31057537

Variant Present in the following documents:

• Main text
• fimmu-10-00777.pdf

View BVdb publication page

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First Occurrence of Plasmablastic Lymphoma in Adenosine Deaminase-Deficient Severe Combined Immunodeficiency Disease Patient and Review of the Literature.

Frontiers In Immunology

Migliavacca, Maddalena M; Assanelli, Andrea A; Ponzoni, Maurilio M; Pajno, Roberta R; Barzaghi, Federica F; Giglio, Fabio F; Ferrua, Francesca F; Frittoli, Marta M; Brigida, Immacolata I; Dionisio, Francesca F; Nicoletti, Roberto R; Casiraghi, Miriam M; Roncarolo, Maria Grazia MG; Doglioni, Claudio C; Peccatori, Jacopo J; Ciceri, Fabio F; Cicalese, Maria Pia MP; Aiuti, Alessandro A

Publication Date: 2018

Variant appearance in text: ADA: A83D

PubMed Link: 29456531

Variant Present in the following documents:

• Main text
• fimmu-09-00113.pdf

View BVdb publication page

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Detecting protein variants by mass spectrometry: a comprehensive study in cancer cell-lines.

Genome Medicine

Alfaro, Javier A JA; Ignatchenko, Alexandr A; Ignatchenko, Vladimir V; Sinha, Ankit A; Boutros, Paul C PC; Kislinger, Thomas T

Publication Date: 2017-07-18

Variant appearance in text: ADA: A83D; rs121908726

PubMed Link: 28716134

Variant Present in the following documents:

• 13073_2017_454_MOESM6_ESM.xlsx, sheet 1

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: rs121908726

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Lipoprotein lipase is an important modulator of lipid uptake and storage in hypothalamic neurons.

Biochemical And Biophysical Research Communications

Libby, Andrew E AE; Wang, Hong H; Mittal, Richa R; Sungelo, Mitchell M; Potma, Eric E; Eckel, Robert H RH

Publication Date: 2015-09-18

Variant appearance in text: ADA: A83D

PubMed Link: 26265042

Variant Present in the following documents:

• Main text

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: ADA: A83D

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

View BVdb publication page

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