Varaico: Literature-Extracted Genetic Variants

Gene:DOLK
Variant:p.L421P
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DOLK

NM_014908.4:p.L421P

Associated Papers

Fatal Neonatal DOLK-CDG as a Rare Form of Syndromic Ichthyosis.

Komlosi K et al.

Frontiers in Genetics, 2021

Fatal hyperkeratosis syndrome in four siblings due to dolichol kinase deficiency.

Hall BD et al.

American Journal of Medical Genetics. Part A, 2020

Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy.

Mazzarotto F et al.

Circulation, 2020

31983221 (PubMed )
Supplement: cir-141-387-s002.xlsx › Table_S3
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