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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:LAMB3

Variant:p.E210Splc

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LAMB3

NM_000228.3:p.E210Splc

hg38:chr1:209632788 A>C

Associated Papers

A novel splice-site variant of the LAMB3 gene is associated with junctional epidermolysis bullosa

Liang B et al.

European Journal of Dermatology : Ejd, 2022

36468719 (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."