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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RPGRIP1L

Variant:p.S217_Q218delFs

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RPGRIP1L

NM_015272.5:p.S217_Q218delFs

hg38:chr16:53686555 TTGTG>T

Associated Papers

TCTN3 mutations cause Mohr-Majewski syndrome.

Thomas S et al.

American Journal of Human Genetics, 2012

22883145 (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."