Varaico: Literature-Extracted Genetic Variants

Gene:SPTA1
Variant:p.R1047*
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SPTA1

NM_003126.4:p.R1047*

Associated Papers

Effect of primary lesions in cytoskeleton proteins on red cell membrane stability in patients with hereditary spherocytosis.

Vercellati C et al.

Frontiers in Physiology, 2022

Targeted Next Generation Sequencing and Diagnosis of Congenital Hemolytic Anemias: A Three Years Experience Monocentric Study.

Fermo E et al.

Frontiers in Physiology, 2021

Aberrant splicing contributes to severe α-spectrin-linked congenital hemolytic anemia.

Gallagher PG et al.

The Journal of Clinical Investigation, 2019

Clinical, radiologic, and genetic characteristics of histone H3 K27M-mutant diffuse midline gliomas in adults.

Schulte JD et al.

Neuro-oncology Advances, 0

33354667 (PubMed )
Supplement: vdaa142_suppl_supplementary_tables.xlsx › Table_S1_NGS_SNV_indel_data
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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."