Varaico: Literature-Extracted Genetic Variants

Gene:PAFAH1B1
Variant:p.M1I
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PAFAH1B1

NM_000430.4:p.M1I

Associated Papers

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

Simoes C et al.

Bmc Pediatrics, 2022

Mutation Edgotype Drives Fitness Effect in Human.

Ghadie M et al.

Frontiers in Bioinformatics, 2021

36303776 (PubMed )
Supplement: Table2.XLSX › _D__Lit-SI_pathMt_edgotype
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