Varaico: Literature-Extracted Genetic Variants

Gene:PAFAH1B1
Variant:p.Q244*
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PAFAH1B1

NM_000430.4:p.Q244*

Associated Papers

Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.

Wei J et al.

Plos Biology, 2024

38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar

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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