Publications:

SOD-1 Variants in Amyotrophic Lateral Sclerosis: Systematic Re-Evaluation According to ACMG-AMP Guidelines.

Genes

Ruffo, Paola P; Perrone, Benedetta B; Conforti, Francesca Luisa FL

Publication Date: 2022-03-18

Variant appearance in text: PS1: 418A>G

PubMed Link: 35328090

Variant Present in the following documents:

• genes-13-00537.pdf

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Analysis of 138 pathogenic mutations in presenilin-1 on the in vitro production of Aβ42 and Aβ40 peptides by γ-secretase.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Sun, Linfeng L; Zhou, Rui R; Yang, Guanghui G; Shi, Yigong Y

Publication Date: 2017-01-24

Variant appearance in text: PS1: I140V

PubMed Link: 27930341

Variant Present in the following documents:

• Main text

View BVdb publication page