Varaico: Literature-Extracted Genetic Variants

Gene:CBS
Variant:p.G256_T262delFs
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CBS

NM_000071.3:p.G256_T262delFs

Associated Papers

Mechanism of Disease: Recessive ADAMTSL4 Mutations and Craniosynostosis with Ectopia Lentis.

Gustafson J et al.

Case Reports in Genetics, 2022

A genotype-phenotype comparison of ADAMTSL4 and FBN1 in isolated ectopia lentis.

Chandra A et al.

Investigative Ophthalmology & Visual Science, 2012

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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."