Varaico: Literature-Extracted Genetic Variants

Gene:SP5
Variant:p.A38V
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SP5

NM_001003845.3:p.A38V

Associated Papers

L1 syndrome diagnosis complemented with functional analysis of L1CAM variants located to the two N-terminal Ig-like domains.

Christaller WA et al.

Clinical Genetics, 2017

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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."