Varaico: Literature-Extracted Genetic Variants

Gene:PCARE
Variant:p.S512*
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PCARE

NM_001029883.3:p.S512*

Associated Papers

Research progress of RP1L1 gene in disease.

Liu J et al.

Gene, 2024

Clinical and Molecular Aspects of C2orf71/PCARE in Retinal Diseases.

Zufiaurre-Seijo M et al.

International Journal of Molecular Sciences, 2023

Understanding mutational effects in digenic diseases.

Gazzo A et al.

Nucleic Acids Research, 2017

28911095 (PubMed )
Supplement: gkx557_supp.zip › nar-00132-met-n-2017-File009.pdf

Putative digenic inheritance of heterozygous RP1L1 and C2orf71 null mutations in syndromic retinal dystrophy.

Liu YP et al.

Ophthalmic Genetics, 0

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