Varaico: Literature-Extracted Genetic Variants

Gene:SPTA1
Variant:p.A867E
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SPTA1

NM_003126.4:p.A867E

Associated Papers

Comprehensive Evaluation of a 1021-Gene Panel in FFPE and Liquid Biopsy for Analytical and Clinical Use.

Meintani A et al.

International Journal of Molecular Sciences, 2025

40649709 (PubMed )
Supplement: ijms-26-05930-s001.zip › Supplementary_Table_2_and_Figure_S1.xlsx › Table_S3

The genetic landscape and clinical implication of pediatric Moyamoya angiopathy in an international cohort.

Zanoni P et al.

European Journal of Human Genetics : Ejhg, 2023

37012328 (PubMed )
Supplement: 41431_2023_1320_MOESM5_ESM.pdf

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 266.133
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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."