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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TMEM67

Variant:p.A813_E814Splc

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TMEM67

NM_153704.6:p.A813_E814Splc

hg38:chr8:93808838 A>G

Associated Papers

Mutational analysis of the RPGRIP1L gene in patients with Joubert syndrome and nephronophthisis.

Wolf MT et al.

Kidney International, 2007

17960139 (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."