Varaico: Literature-Extracted Genetic Variants

Gene:PAFAH1B1
Variant:p.I174_W177delins
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PAFAH1B1

NM_000430.4:p.I174_W177delins

Associated Papers

Analysis of lissencephaly-causing LIS1 mutations.

Sapir T et al.

European Journal of Biochemistry, 1999

Intracellular levels of the LIS1 protein correlate with clinical and neuroradiological findings in patients with classical lissencephaly.

Fogli A et al.

Annals of Neurology, 1999

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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."