Varaico: Literature-Extracted Genetic Variants

Gene:KRIT1
Variant:p.L308L
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KRIT1

NM_194454.3:p.L308L

Associated Papers

The site of a missense mutation in the extracellular Ig or FN domains of L1CAM influences infant mortality and the severity of X linked hydrocephalus.

Michaelis RC et al.

Journal of Medical Genetics, 1998

A silent mutation, C924T (G308G), in the L1CAM gene results in X linked hydrocephalus (HSAS).

Du YZ et al.

Journal of Medical Genetics, 1998

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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."