Varaico: Literature-Extracted Genetic Variants

Gene:HSD17B10
Variant:p.L122F
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HSD17B10

NM_004493.3:p.L122F

Associated Papers

Genotype and phenotype spectrum of 10 children with STXBP1 gene-related encephalopathy and epilepsy.

Dong M et al.

Frontiers in Pediatrics, 2022

Novel recurrently mutated genes and a prognostic mutation signature in colorectal cancer.

Yu J et al.

Gut, 2015

24951259 (PubMed )
Supplement: gutjnl-2013-306620-s7.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."