Varaico: Literature-Extracted Genetic Variants

Gene:PAFAH1B1
Variant:p.S167P
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PAFAH1B1

NM_000430.4:p.S167P

Associated Papers

Subcortical band heterotopia (SBH) in males: clinical, imaging and genetic findings in comparison with females.

D'Agostino MD et al.

Brain : a Journal of Neurology, 2002

Clinical and molecular basis of classical lissencephaly: Mutations in the LIS1 gene (PAFAH1B1).

Cardoso C et al.

Human Mutation, 2002

The location and type of mutation predict malformation severity in isolated lissencephaly caused by abnormalities within the LIS1 gene.

Cardoso C et al.

Human Molecular Genetics, 2000

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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."