Publications:

Acute intermittent porphyria: prevalence of pathogenic HMBS variants in China, and epidemiological survey in Hebei Province, China.

Annals Of Translational Medicine

Ma, Liyan L; Tian, Yu Y; Qi, Xuan X; Li, Pei P; Li, Jie J; Teng, Qing Q; Ma, Yuelin Y; Zhang, Songyun S

Publication Date: 2022-05

Variant appearance in text: ADA: 95G>A

PubMed Link: 35722412

Variant Present in the following documents:

• atm-10-10-560.pdf

View BVdb publication page

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: R32K; rs1356820014

PubMed Link: 31781678

Variant Present in the following documents:

• 5902391.f1.pdf

View BVdb publication page