Varaico: Literature-Extracted Genetic Variants

Gene:SLC12A2
Variant:p.Y199C
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SLC12A2

NM_001046.3:p.Y199C

Associated Papers

NKCC1 Deficiency in Forming Hippocampal Circuits Triggers Neurodevelopmental Disorder: Role of BDNF-TrkB Signalling.

Szymanski J et al.

Brain Sciences, 2022

Physiological Processes Modulated by the Chloride-Sensitive WNK-SPAK/OSR1 Kinase Signaling Pathway and the Cation-Coupled Chloride Cotransporters.

Murillo-de-Ozores AR et al.

Frontiers in Physiology, 2020

Gain-of-function missense variant in SLC12A2, encoding the bumetanide-sensitive NKCC1 cotransporter, identified in human schizophrenia.

Merner ND et al.

Journal of Psychiatric Research, 2016

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."