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: D296N

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.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: D296N; rs765445980

PubMed Link: 31781678

Variant Present in the following documents:

• 5902391.f1.pdf

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Structural basis for stereoselective dehydration and hydrogen-bonding catalysis by the SAM-dependent pericyclase LepI.

Nature Chemistry

Cai, Yujuan Y; Hai, Yang Y; Ohashi, Masao M; Jamieson, Cooper S CS; Garcia-Borras, Marc M; Houk, K N KN; Zhou, Jiahai J; Tang, Yi Y

Publication Date: 2019-09

Variant appearance in text: ADA: D296N

PubMed Link: 31332284

Variant Present in the following documents:

• NIHMS1532026-supplement-1.pdf

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