Varaico: Literature-Extracted Genetic Variants

Gene:PKHD1
Variant:p.V836_D839del0
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PKHD1

NM_138694.4:p.V836_D839del0

Associated Papers

Novel mutations of PKHD1 and AHI1 identified in two families with cystic renal disease.

Hou L et al.

International Journal of Clinical and Experimental Pathology, 2018

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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."