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. 2021 Jun;185(6):1918-1921.
doi: 10.1002/ajmg.a.62153. Epub 2021 Mar 10.

A novel ALG14 missense variant in an alive child with myopathy, epilepsy, and progressive cerebral atrophy

Flavia Palombo  1 , Benedetta Piccolo  2 , Elena Saccani  3 , Claudio Fiorini  1 , Mariantonietta Capristo  1 , Leonardo Caporali  1 , Francesco Pisani  4 , Valerio Carelli  1   5
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A novel ALG14 missense variant in an alive child with myopathy, epilepsy, and progressive cerebral atrophy

Flavia Palombo et al. Am J Med Genet A. 2021 Jun.
No abstract available

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References

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