Varaico: Literature-Extracted Genetic Variants

Gene:ROM1
Variant:p.M271T
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ROM1

NM_000327.4:p.M271T

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.s002.xlsx › Sheet1

Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 families.

Sullivan LS et al.

Investigative Ophthalmology & Visual Science, 2006

Polymorphisms and rare sequence variants at the ROM1 locus.

Bascom RA et al.

Human Molecular Genetics, 1993

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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."