Varaico: Literature-Extracted Genetic Variants

Gene:GNS
Variant:p.L28delFs
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GNS

NM_002076.4:p.L28delFs

Associated Papers

Middle Eastern Genetic Variation Improves Clinical Annotation of the Human Genome.

Ramaswamy S et al.

Journal of Personalized Medicine, 2022

35330423 (PubMed )
Supplement: jpm-12-00423-s001.zip › Supplementary_Table.xlsx › Supp_Table3

Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophies.

Patel N et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016

Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.

Unknown Author

Genome Biology, 2015

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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."