Varaico: Literature-Extracted Genetic Variants

Gene:CBS
Variant:p.S476_D477ins7
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CBS

NM_000071.3:p.S476_D477ins7

Associated Papers

A cautionary tale of pyridoxine toxicity in cystathionine beta-synthase deficiency detected by two-tier newborn screening highlights the need for clear pyridoxine dosing guidelines.

Ames EG et al.

American Journal of Medical Genetics. Part A, 2020

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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."