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Updated: Jul 26, 2025

Functional Characterization of Na+/H+ Exchangers of Intracellular Compartments Using Proton-killing Selection to Express Them at the Plasma Membrane
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与BRAT1相关的疾病: 97名患者的表型谱和表型-基因型相关性

Camille Engel1, Stéphanie Valence2, Geoffroy Delplancq3

  • 1Centre de Génétique Humaine, Centre Hospitalier Régional Universitaire, Université de Franche-Comté, Besançon, France. cengel@chu-besancon.fr.

European journal of human genetics : EJHG
|June 21, 2023
PubMed
概括

在BRAT1基因的双变异导致严重的新生儿综合征或轻微的神经发育障碍. 基因型-表型相关性显示无意义/移变体与致命的RMFSL相关,而误解变体表明NEDCAS.

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