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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NPHP1

Variant:p.E208_P209Splc

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NPHP1

NM_001128178.3:p.E208_P209Splc

hg38:chr2:110165157 T>C

Associated Papers

Retinal Diseases Caused by Mutations in Genes Not Specifically Associated with the Clinical Diagnosis.

Wang X et al.

Plos One, 2016

27788217 (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."