Varaico: Literature-Extracted Genetic Variants

Gene:PLA2G7
Variant:p.S169P
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PLA2G7

NM_005084.4:p.S169P

Associated Papers

LIS1 missense mutations: variable phenotypes result from unpredictable alterations in biochemical and cellular properties.

Caspi M et al.

The Journal of Biological Chemistry, 2003

NudE-L, a novel Lis1-interacting protein, belongs to a family of vertebrate coiled-coil proteins.

Sweeney KJ et al.

Mechanisms of Development, 2001

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

Lissencephaly associated mutations suggest a requirement for the PAFAH1B heterotrimeric complex in brain development.

Sweeney KJ et al.

Mechanisms of Development, 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."