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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DISP1

Variant:p.H1189D

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DISP1

NM_001377229.1:p.H1189D

hg38:chr1:223004962 C>G

Associated Papers

Truncating loss-of-function mutations of DISP1 contribute to holoprosencephaly-like microform features in humans.

Roessler E et al.

Human Genetics, 2009

19184110 (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."