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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KNTC1

Variant:p.P219del1

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KNTC1

NM_014708.6:p.P219del1

hg38:chr12:122544253 TTCC>T

Associated Papers

The role of the peripherin/RDS gene in retinal dystrophies.

Kohl S et al.

Acta Anatomica, 1998

9831753 (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."