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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KMT2D

Variant:p.S2654fs

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KMT2D

NM_003482.4:p.S2654fs

hg38:chr12:49039808 G>GN

Associated Papers

Recurrent SMARCB1 Inactivation in Epithelioid Malignant Peripheral Nerve Sheath Tumors.

Schaefer IM et al.

The American Journal of Surgical Pathology, 2019

30864974 (PubMed )

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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."