Varaico: Literature-Extracted Genetic Variants

Gene:CBS
Variant:p.D328N
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CBS

NM_000071.3:p.D328N

Associated Papers

Homocystinuria and ocular complications - A review.

Rahman M et al.

Indian Journal of Ophthalmology, 2022

Early Diagnosis of Classic Homocystinuria in Kuwait through Newborn Screening: A 6-Year Experience.

Alsharhan H et al.

International Journal of Neonatal Screening, 2021

Seven novel genetic variants in a North Indian cohort with classical homocystinuria.

Kaur R et al.

Scientific Reports, 2020

Novel cystathionine β-synthase gene mutations in a Filipino patient with classic homocystinuria.

Silao CL et al.

Pediatrics International : Official Journal of the Japan Pediatric Society, 2015

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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."