Varaico: Literature-Extracted Genetic Variants

Gene:PAFAH1B1
Variant:p.L51fs
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PAFAH1B1

NM_000430.4:p.L51fs

Associated Papers

Novel frameshift mutation in LIS1 gene is a probable cause of lissencephaly: a case report.

Simoes C et al.

Bmc Pediatrics, 2022

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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."