Varaico: Literature-Extracted Genetic Variants

Gene:PAFAH1B1
Variant:p.W55insFs
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PAFAH1B1

NM_000430.4:p.W55insFs

Associated Papers

Deletion of 17p13 and LIS1 gene mutation in isolated lissencephaly sequence.

Elias RC et al.

Pediatric Neurology, 2006

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

Cardoso C et al.

Human Mutation, 2002

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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."