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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GDF3

Variant:p.V78L

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GDF3

NM_020634.3:p.V78L

hg38:chr12:7695497 C>G

Associated Papers

Genetic investigation of 93 families with microphthalmia or posterior microphthalmos.

Patel N et al.

Clinical Genetics, 2018

29450879 (PubMed )

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."