Varaico: Literature-Extracted Genetic Variants

Gene:RERE
Variant:p.H1435L
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RERE

NM_001042681.2:p.H1435L

Associated Papers

Correction to "Genotype-phenotype correlations in individuals with pathogenic RERE variants".

Unknown Author

Human Mutation, 2025

Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

Pejaver V et al.

American Journal of Human Genetics, 2022

36413997 (PubMed )
Supplement: mmc2.xlsx › mmc2

Genotype-phenotype correlations in individuals with pathogenic RERE variants.

Jordan VK et al.

Human Mutation, 2018

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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."