Varaico: Literature-Extracted Genetic Variants

Gene:NEK9
Variant:p.T586del1
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NEK9

NM_033116.6:p.T586del1

Associated Papers

Mosaic NEK9 mutation, fibrous dysplasia and premature puberty in naevus comedonicus syndrome.

Carmignac V et al.

The British Journal of Dermatology, 2021

Genetic skin disorders: The value of a multidisciplinary clinic.

Parker JC et al.

American Journal of Medical Genetics. Part A, 2021

Further delineation of the phenotypic spectrum of nevus comedonicus syndrome to include congenital pulmonary airway malformation of the lung and aneurysm.

Sheppard SE et al.

American Journal of Medical Genetics. Part A, 2020

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."