Varaico: Literature-Extracted Genetic Variants

Gene:SP2
Variant:p.A227S
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SP2

NM_003110.6:p.A227S

Associated Papers

Molecular characterization of sub-frontal recurrent medulloblastomas reveals potential clinical relevance.

Chen Z et al.

Frontiers in Neurology, 2023

37181548 (PubMed )
Supplement: Data_Sheet_2.xlsx › Germline_mutation-case_1

A de novo Mutation in the MTUS1 Gene Decreases the Risk of Non-compaction of Ventricular Myocardium via the Rac1/Cdc42 Pathway.

Bai X et al.

Frontiers in Pediatrics, 2019

31338350 (PubMed )
Supplement: Data_Sheet_1.pdf
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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."