Varaico: Literature-Extracted Genetic Variants

Gene:ETV6
Variant:p.I278T
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ETV6

NM_001987.5:p.I278T

Associated Papers

Strategies for the treatment of cystathionine beta-synthase deficiency: the experience of the Willink Biochemical Genetics Unit over the past 30 years.

Walter JH et al.

European Journal of Pediatrics, 1998

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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."