Varaico: Literature-Extracted Genetic Variants

Gene:SLC4A1
Variant:p.T686M
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SLC4A1

NM_000342.4:p.T686M

Associated Papers

Hereditary anemia caused by multilocus inheritance of PIEZO1, SLC4A1 and ABCB6 mutations: a diagnostic and therapeutic challenge.

Rosato BE et al.

Haematologica, 2022

Early detection of lysosomal diseases by screening of cases of idiopathic splenomegaly and/or thrombocytopenia with a next-generation sequencing gene panel.

Muñoz G et al.

Jimd Reports, 2020

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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."