Varaico: Literature-Extracted Genetic Variants

Gene:SLC12A3
Variant:p.W381*
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SLC12A3

NM_001126108.2:p.W381*

Associated Papers

Unveiling genetic insights: Array-CGH and WES discoveries in a cohort of 122 children with essential autism spectrum disorder.

Granata P et al.

Bmc Genomics, 2024

39654053 (PubMed )
Supplement: 12864_2024_11077_MOESM1_ESM.pdf

Generation and analysis of the thiazide-sensitive Na+ -Cl- cotransporter (Ncc/Slc12a3) Ser707X knockin mouse as a model of Gitelman syndrome.

Yang SS et al.

Human Mutation, 2010

Inactivation of the Na-Cl co-transporter (NCC) gene is associated with high BMD through both renal and bone mechanisms: analysis of patients with Gitelman syndrome and Ncc null mice.

Nicolet-Barousse L et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2005

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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."