Varaico: Literature-Extracted Genetic Variants

Gene:NISCH
Variant:p.I76L
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NISCH

NM_007184.4:p.I76L

Associated Papers

Cystathionine beta-synthase deficiency in Georgia (USA): correlation of clinical and biochemical phenotype with genotype.

Kruger WD et al.

Human Mutation, 2003

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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."