Varaico: Literature-Extracted Genetic Variants

Gene:PROM1
Variant:p.M1T
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PROM1

NM_006017.3:p.M1T

Associated Papers

Clinical and Genetic Analysis of RDH12-Associated Retinopathy in 27 Chinese Families: A Hypomorphic Allele Leads to Cone-Rod Dystrophy.

Wang J et al.

Investigative Ophthalmology & Visual Science, 2022

35994252 (PubMed )
Supplement: iovs-63-9-24_s004.xlsx › Sheet1

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

Molecular evolutionary analysis of ABCB5: the ancestral gene is a full transporter with potentially deleterious single nucleotide polymorphisms.

Moitra K et al.

Plos One, 2011

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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."