Varaico: Literature-Extracted Genetic Variants

Gene:FOXE1
Variant:p.L49fs
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FOXE1

NM_004473.4:p.L49fs

Associated Papers

A new FOXE1 homozygous frameshift variant expands the genotypic and phenotypic spectrum of Bamforth-Lazarus syndrome.

Sarma AS et al.

European Journal of Medical Genetics, 2022

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