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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TMEM67

Variant:p.R852_K853Splc

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TMEM67

NM_153704.6:p.R852_K853Splc

hg38:chr8:93808957 G>A

Associated Papers

Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy.

Otto EA et al.

Journal of Medical Genetics, 2011

21068128 (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."