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

Four putative pathogenic ARHGAP29 variants in patients with non-syndromic orofacial clefts (NsOFC).

在非综合征性口面裂(NsOFC)患者中发现了四种假定的致病性 ARHGAP29 变异

Ranji Peyman, Pairet Eleonore, Helaers Raphael, Bayet Bénédicte, Gerdom Alexander, Gil-da-Silva-Lopes Vera Lúcia, Revencu Nicole, Vikkula Miikka

Likely Pathogenic/Pathogenic Variants in the Spliceosome Complex Genes SNRNP200, SF3B1, SF3B2, and SF3B4 Implicated in Nonsyndromic Orofacial Cleft

剪接体复合体基因 SNRNP200、SF3B1、SF3B2 和 SF3B4 中可能致病/致病性变异与非综合征性口面裂有关

Ranji, Peyman; Pairet, Eleonore; Helaers, Raphael; Brouillard, Pascal; Bayet, Bénédicte; Gerdom, Alexander; Revencu, Nicole; Vikkula, Miikka