Varaico: Literature-Extracted Genetic Variants

Gene:DISP1
Variant:p.A1247T
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DISP1

NM_001377229.1:p.A1247T

Associated Papers

Development and Characterization of Bladder Cancer Patient-Derived Xenografts for Molecularly Guided Targeted Therapy.

Pan CX et al.

Plos One, 2015

26270481 (PubMed )
Supplement: pone.0134346.s006.xlsx › Supp_Table_3

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

Roessler E et al.

Human Genetics, 2009

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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."