Varaico: Literature-Extracted Genetic Variants

Gene:RS1
Variant:p.N99D
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RS1

NM_000330.4:p.N99D

Associated Papers

Predominant Founder Effect among Recurrent Pathogenic Variants for an X-Linked Disorder.

Bender C et al.

Genes, 2022

Molecular Diagnosis of Inherited Retinal Diseases in Indigenous African Populations by Whole-Exome Sequencing.

Roberts L et al.

Investigative Ophthalmology & Visual Science, 2016

27898983 (PubMed )
Supplement: iovs-57-14-17_s03.xlsx › 226RetnetDATA2P6M6A0ORout
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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."