Publications:

Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports

Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA

Publication Date: 2020-09-21

Variant appearance in text: ADA: E121V

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 3

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mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports

Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM

Publication Date: 2020-06-23

Variant appearance in text: ADA: E121V

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

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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: E121V; rs748035221

PubMed Link: 31781678

Variant Present in the following documents:

• 5902391.f1.pdf

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Comprehensive Genetic Results for Primary Immunodeficiency Disorders in a Highly Consanguineous Population.

Frontiers In Immunology

Al-Herz, Waleed W; Chou, Janet J; Delmonte, Ottavia Maria OM; Massaad, Michel J MJ; Bainter, Wayne W; Castagnoli, Riccardo R; Klein, Christoph C; Bryceson, Yenan T YT; Geha, Raif S RS; Notarangelo, Luigi D LD

Publication Date: 2018

Variant appearance in text: ADA: 362A>T

PubMed Link: 30697212

Variant Present in the following documents:

• fimmu-09-03146.pdf

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