日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Integrating AlphaFold2 models and clinical data to improve the assessment of Short Linear Motifs (SLiMs) and their variants' pathogenicity

整合 AlphaFold2 模型和临床数据,以改进对短线性基序 (SLiM) 及其变异致病性的评估

Brunello, Franco Gino; Erra, Lorenzo; Nicola, Juan; Martí, Marcelo Adrián

T and NK cell functionality in a patient harboring heterozygous novel BCL11B p.Asp632fsAla∗91 and STX11 p.R129P mutations.

携带杂合新型 BCL11B p.Asp632fsAla∗91 和 STX11 p.R129P 突变的患者的 T 细胞和 NK 细胞功能

Erra Lorenzo, Colado Ana, Brunello Franco Gino, Prieto Emma, Goris Verónica, Villa Mariana, Oleastro Matías, Martí Marcelo, Pozner Roberto Gabriel, Borge Mercedes, Almejun María Belén