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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CBS

Variant:p.S466*

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CBS

NM_000071.3:p.S466*

hg38:chr21:43058215 G>T

Associated Papers

Homocystinuria and ocular complications - A review.

Rahman M et al.

Indian Journal of Ophthalmology, 2022

35791106 (PubMed )

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

Kaur R et al.

Scientific Reports, 2020

33057012 (PubMed )

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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."