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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SORBS1

Variant:p.S240_F241insFs

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SORBS1

NM_001034954.3:p.S240_F241insFs

hg38:chr10:95414584 G>GC

Associated Papers

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

Bai D et al.

Heliyon, 2024

38434377 (PubMed )

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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."