Varaico: Literature-Extracted Genetic Variants

Gene:CBS
Variant:p.Q365*
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CBS

NM_000071.3:p.Q365*

Associated Papers

Clinical, biochemical and molecular characteristics of classic homocystinuria in Saudi Arabia and the impact of newborn screening on prevention of the complications: A tertiary center experience.

Mohamed AS et al.

Jimd Reports, 2025

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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."