Varaico: Literature-Extracted Genetic Variants

Gene:LRIG2
Variant:p.R550C
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LRIG2

NM_014813.3:p.R550C

Associated Papers

Lrig2 and Hpse2, mutated in urofacial syndrome, pattern nerves in the urinary bladder.

Roberts NA et al.

Kidney International, 2019

Two hits in one: whole genome sequencing unveils LIG4 syndrome and urofacial syndrome in a case report of a child with complex phenotype.

Fadda A et al.

Bmc Medical Genetics, 2016

LRIG2 mutations cause urofacial syndrome.

Stuart HM et al.

American Journal of Human Genetics, 2013

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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."