Varaico: Literature-Extracted Genetic Variants

Gene:GRM6
Variant:p.V243delFs
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GRM6

NM_000843.4:p.V243delFs

Associated Papers

Compound heterozygous mutations in GRM6 causing complete Schubert-Bornschein type congenital stationary night blindness.

Bai D et al.

Heliyon, 2024

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."