Varaico: Literature-Extracted Genetic Variants

Gene:L1CAM
Variant:p.C264F
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L1CAM

NM_001278116.2:p.C264F

Associated Papers

CRASH syndrome: clinical spectrum of corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraparesis and hydrocephalus due to mutations in one single gene, L1.

Fransen E et al.

European Journal of Human Genetics : Ejhg, 1995

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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."