Varaico: Literature-Extracted Genetic Variants

Gene:PRPH2
Variant:p.V106V
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PRPH2

NM_000322.5:p.V106V

Associated Papers

Human iPSC-based breast cancer model identifies S100P-dependent cancer stemness induced by BRCA1 mutation.

Liu J et al.

Science Advances, 2025

40712032 (PubMed )
Supplement: sciadv.adi2370_tables_s8_and_s9.zip › adi2370_table_s9.xlsx › BRCA1-mutant_corrected_iPSC

PRPH2-Related Retinal Dystrophies: Mutational Spectrum in 103 Families from a Spanish Cohort.

Fernández-Caballero L et al.

International Journal of Molecular Sciences, 2024

38474159 (PubMed )
Supplement: ijms-25-02913-s001.zip › ijms-2879246-supplementary.xlsx › Table_S1

Genomic, transcriptomic, and metabolomic profiles of hiPSC-derived dopamine neurons from clinically discordant brothers with identical PRKN deletions.

Cukier HN et al.

Npj Parkinson's Disease, 2022

35768426 (PubMed )
Supplement: 41531_2022_346_MOESM4_ESM.xlsx › Sheet1

FUS P525L mutation causing amyotrophic lateral sclerosis and movement disorders.

Zhou B et al.

Brain and Behavior, 2020

32307925 (PubMed )
Supplement: BRB3-10-e01625-s002.xlsx › RawData

Analysis of ELOVL4 and PRPH2 genes in Turkish Stargardt disease patients.

Bardak H et al.

Genetics and Molecular Research : Gmr, 2016

Evaluation of the ELOVL4, PRPH2 and ABCA4 genes in patients with Stargardt macular degeneration.

Yi J et al.

Molecular Medicine Reports, 2012

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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."