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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KMT2D

Variant:p.S2309L

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KMT2D

NM_003482.4:p.S2309L

hg38:chr12:49040844 G>A

Associated Papers

Exome analysis of carotid body tumor.

Snezhkina AV et al.

Bmc Medical Genomics, 2018

29504908 (PubMed )

Supplement: 12920_2018_327_MOESM3_ESM.xlsx › s2

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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."