Varaico: Literature-Extracted Genetic Variants

Gene:ROM1
Variant:p.G75D
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ROM1

NM_000327.4:p.G75D

Associated Papers

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

A monogenic dominant mutation in Rom1 generated by N-ethyl-N-nitrosourea mutagenesis causes retinal degeneration in mice.

Sato H et al.

Molecular Vision, 2010

Mutation analysis of the ROM1 gene in retinitis pigmentosa.

Bascom RA et al.

Human Molecular Genetics, 1995

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