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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:B3GLCT

Variant:p.K153_E154Splc

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B3GLCT

NM_194318.4:p.K153_E154Splc

hg38:chr13:31248032 A>T

Associated Papers

Mutation analysis of B3GALTL in Peters Plus syndrome.

Reis LM et al.

American Journal of Medical Genetics. Part A, 2008

18798333 (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."