Varaico: Literature-Extracted Genetic Variants

Gene:CBS
Variant:p.K325N
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CBS

NM_000071.3:p.K325N

Associated Papers

Development of low-cost in-house tetra-ARMS-PCR assay for the screening of five CBS mutations found in Pakistani homocystinuria patients.

Khalil A et al.

Nucleosides, Nucleotides & Nucleic Acids, 2024

Identification of three novel pathogenic mutations in cystathionine beta-synthase gene of Pakistani intellectually disabled patients.

Wasim M et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2022

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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."