Varaico: Literature-Extracted Genetic Variants

Gene:SPTB
Variant:p.W1394C
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SPTB

NM_001355436.2:p.W1394C

Associated Papers

Different Contribution of Missense and Loss-of-Function Variants to the Genetic Structure of Familial and Sporadic Meniere Disease.

Parra-Perez AM et al.

Medcomm, 2025

40989574 (PubMed )
Supplement: MCO2-6-e70394-s001.xlsx › TableS13

Targeted next generation sequencing for the diagnosis of patients with rare congenital anemias.

Shefer Averbuch N et al.

European Journal of Haematology, 2018

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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."