Varaico: Literature-Extracted Genetic Variants

Gene:AHI1
Variant:p.R435Q
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AHI1

NM_001134831.2:p.R435Q

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

A Homozygous Missense Variant in INPP5E Associated with Joubert Syndrome and Related Disorders.

Shetty M et al.

Molecular Syndromology, 2017

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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."