Varaico: Literature-Extracted Genetic Variants

Gene:ELANE
Variant:p.V197fs
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ELANE

NM_001972.4:p.V197fs

Associated Papers

Screening for ELANE, HAX1 and GFI1 gene mutations in children with neutropenia and clinical characterization of two novel mutations in ELANE gene.

Komvilaisak P et al.

Bmc Pediatrics, 2023

The diversity of mutations and clinical outcomes for ELANE-associated neutropenia.

Makaryan V et al.

Current Opinion in Hematology, 2015

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