Varaico: Literature-Extracted Genetic Variants

Gene:SPTA1
Variant:p.V870M
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SPTA1

NM_003126.4:p.V870M

Associated Papers

Multi-Omics Characterization of the Spontaneous Mesenchymal-Epithelial Transition in the PMC42 Breast Cancer Cell Lines.

Bhatia S et al.

Journal of Clinical Medicine, 2019

31430931 (PubMed )
Supplement: jcm-08-01253-s001.zip › Supplementary_Info › Suppl_Tables.xlsx › S5.ET_SNP_deleterious

Pyridoxine-sensitive X-linked 'sideroblastic' anaemia in the absence of ring sideroblasts - molecular diagnosis.

Creasey T et al.

British Journal of Haematology, 2018

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