Varaico: Literature-Extracted Genetic Variants

Gene:PROM1
Variant:p.M1_A2insFs
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PROM1

NM_006017.3:p.M1_A2insFs

Associated Papers

Molecular Diagnosis of 34 Japanese Families with Leber Congenital Amaurosis Using Targeted Next Generation Sequencing.

Hosono K et al.

Scientific Reports, 2018

29844330 (PubMed )
Supplement: 41598_2018_26524_MOESM1_ESM.docx

Retinitis Pigmentosa with EYS Mutations Is the Most Prevalent Inherited Retinal Dystrophy in Japanese Populations.

Arai Y et al.

Journal of Ophthalmology, 2015

26161267 (PubMed )
Supplement: 819760.f1.pdf
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