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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PATJ

Variant:p.I769I

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PATJ

NM_001350145.3:p.I769I

hg38:chr1:61856224 C>T

Associated Papers

CRB1 mutation spectrum in inherited retinal dystrophies.

den Hollander AI et al.

Human Mutation, 2004

15459956 (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."