Varaico: Literature-Extracted Genetic Variants

Gene:INPP5E
Variant:p.T551M
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INPP5E

NM_019892.6:p.T551M

Associated Papers

PKD1 mutation may epistatically ameliorate nephronophthisis progression in patients with NPHP1 deletion.

Watanabe S et al.

Clinical Case Reports, 2019

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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."