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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:LAMB3

Variant:p.E1017_V1018Splc

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LAMB3

NM_000228.3:p.E1017_V1018Splc

hg38:chr1:209617591 G>C

Associated Papers

A Novel Phenotype of Junctional Epidermolysis Bullosa with Transient Skin Fragility and Predominant Ocular Involvement Responsive to Human Amniotic Membrane Eyedrops.

Castiglia D et al.

Genes, 2021

34064633 (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."