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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:BMP7

Variant:p.P98L

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BMP7

NM_001719.3:p.P98L

hg38:chr20:57265830 G>A

Associated Papers

Novel mutations in PAX6, OTX2 and NDP in anophthalmia, microphthalmia and coloboma.

Deml B et al.

European Journal of Human Genetics : Ejhg, 2016

26130484 (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."