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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SMPD4

Variant:p.E290*

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SMPD4

NM_017951.5:p.E290*

hg38:chr2:130161269 C>A

Associated Papers

Characterization of a Preclinical In Vitro Model Derived from a SMARCA4-Mutated Sinonasal Teratocarcinosarcoma.

Lorenzo-Guerra SL et al.

Cells, 2023

38201285 (PubMed )

Supplement: cells-13-00081-s001.zip › cells-2770860-supplementary.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."