Varaico: Literature-Extracted Genetic Variants

Gene:PROM1
Variant:p.H681Y
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PROM1

NM_006017.3:p.H681Y

Associated Papers

Stargardt Disease: Clinical Features and Genotypes in an Indian Cohort.

Rao MK et al.

Clinical Genetics, 2025

Deciphering the genetic architecture and ethnographic distribution of IRD in three ethnic populations by whole genome sequence analysis.

Biswas P et al.

Plos Genetics, 2021

Temporal, spatial, and genetic constraints contribute to the patterning and penetrance of murine neurofibromatosis-1 optic glioma.

Brossier NM et al.

Neuro-oncology, 2021

Clinical and Genetic Spectrum of Stargardt Disease in Argentinean Patients.

Mena MD et al.

Frontiers in Genetics, 2021

33841504 (PubMed )
Supplement: Data_Sheet_2.xlsx › Supplementary_Table_2

ULTRAWIDEFIELD AUTOFLUORESENCE IN ABCA4 STARGARDT DISEASE.

Klufas MA et al.

Retina (philadelphia, Pa.), 2018

Mutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian Families.

Van Cauwenbergh C et al.

Plos One, 2017

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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."