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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PITPNM3

Variant:p.V233V

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PITPNM3

NM_031220.4:p.V233V

hg38:chr17:6478625 G>A

Associated Papers

Modification of the PROM1 disease phenotype by a mutation in ABCA4.

Lee W et al.

Ophthalmic Genetics, 2019

31576780 (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."