Varaico: Literature-Extracted Genetic Variants

Gene:CBS
Variant:p.Q445*
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CBS

NM_000071.3:p.Q445*

Associated Papers

Cystathionine Beta-Synthase Deficiency: Three Consecutive Cases Detected in 40 Days by Newborn Screening in Emilia Romagna (Italy) and a Comprehensive Review of the Literature.

Candela E et al.

Children (basel, Switzerland), 2023

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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."