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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CRB1

Variant:p.S1132P

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CRB1

NM_201253.3:p.S1132P

hg38:chr1:197435257 T>C

Associated Papers

Visual acuity in patients with Leber's congenital amaurosis and early childhood-onset retinitis pigmentosa.

Walia S et al.

Ophthalmology, 2010

20079931 (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."