Varaico: Literature-Extracted Genetic Variants

Gene:LAMB1
Variant:p.S703_L704Splc
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LAMB1

NM_002291.3:p.S703_L704Splc

Associated Papers

Bilateral cerebellar cysts and cerebral white matter lesions with cortical dysgenesis: Expanding the phenotype of LAMB1 gene mutations.

Okazaki T et al.

Clinical Genetics, 2018

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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."