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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TMEM67

Variant:p.Q247E

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TMEM67

NM_153704.6:p.Q247E

hg38:chr8:93780617 C>G

Associated Papers

Characterizing the morbid genome of ciliopathies.

Shaheen R et al.

Genome Biology, 2016

27894351 (PubMed )

Supplement: 13059_2016_1099_MOESM2_ESM.xlsx › Sheet1

Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.

Unknown Author

Genome Biology, 2015

26112015 (PubMed )

Supplement: 13059_2015_693_MOESM1_ESM.xls › Sheet1

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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."