Varaico: Literature-Extracted Genetic Variants

Gene:DST
Variant:p.N3143D
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DST

NM_015548.5:p.N3143D

Associated Papers

Whole-exome sequencing identifies multiple pathogenic variants in a large South Indian family with primary open-angle glaucoma.

Shah MH et al.

Indian Journal of Ophthalmology, 2021

Hereditary Sensory and Autonomic Neuropathy: A Case Series of Six Children.

Suthar R et al.

Neurology India, 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."