Varaico: Literature-Extracted Genetic Variants

Gene:PPP4R2
Variant:p.E301V
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PPP4R2

NM_174907.4:p.E301V

Associated Papers

Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic Involvement.

Mechaussier S et al.

American Journal of Human Genetics, 2020

32470375 (PubMed )
Supplement: mmc2.xlsx › Table_S2
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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."