Varaico: Literature-Extracted Genetic Variants

Gene:ROM1
Variant:p.G113delFs
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ROM1

NM_000327.4:p.G113delFs

Associated Papers

Evolutionary history of adenomas to colorectal cancer in FAP families.

Yang C et al.

Frontiers in Genetics, 2024

39021676 (PubMed )
Supplement: DataSheet1.ZIP › Somatic › 18R10488.xls › SNVIndel

Clinical and Genetic Analysis of Retinitis Pigmentosa with Primary Angle Closure Glaucoma in the Chinese Population.

Wang DD et al.

Current Eye Research, 2022

Rare and common variants in ROM1 and PRPH2 genes trans-modify Stargardt/ABCA4 disease.

Zernant J et al.

Plos Genetics, 2022

35353811 (PubMed )
Supplement: pgen.1010129.s001.xlsx › Sheet1

Phenotype Analysis of Retinal Dystrophies in Light of the Underlying Genetic Defects: Application to Cone and Cone-Rod Dystrophies.

Boulanger-Scemama E et al.

International Journal of Molecular Sciences, 2019

The driver landscape of sporadic chordoma.

Tarpey PS et al.

Nature Communications, 2017

29026114 (PubMed )
Supplement: 41467_2017_1026_MOESM5_ESM.xlsx › ST2

Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation.

Boulanger-Scemama E et al.

Orphanet Journal of Rare Diseases, 2015

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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."