Varaico: Literature-Extracted Genetic Variants

Gene:LAMC1
Variant:p.T746M
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LAMC1

NM_002293.4:p.T746M

Associated Papers

NID1-related autosomal dominant Dandy-Walker malformation with occipital cephalocele in three generations.

Dietvorst S et al.

European Journal of Medical Genetics, 2023

Mutations in extracellular matrix genes NID1 and LAMC1 cause autosomal dominant Dandy-Walker malformation and occipital cephaloceles.

Darbro BW et al.

Human Mutation, 2013

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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."