Varaico: Literature-Extracted Genetic Variants

Gene:SI
Variant:p.K4Fs
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SI

NM_001041.4:p.K4Fs

Associated Papers

Premature pubarche in children with Pompe disease.

Tan QK et al.

The Journal of Pediatrics, 2015

Ocular and histologic findings in a series of children with infantile pompe disease treated with enzyme replacement therapy.

Prakalapakorn SG et al.

Journal of Pediatric Ophthalmology and Strabismus, 0

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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."