Varaico: Literature-Extracted Genetic Variants

Gene:PRPF31
Variant:p.M65K
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PRPF31

NM_015629.4:p.M65K

Associated Papers

Nationwide genetic analysis of more than 600 families with inherited eye diseases in Argentina.

Schlottmann PG et al.

Npj Genomic Medicine, 2023

37217489 (PubMed )
Supplement: 41525_2023_352_MOESM3_ESM.xlsx › Sheet1

Comprehensive genomic diagnosis of inherited retinal and optical nerve disorders reveals hidden syndromes and personalized therapeutic options.

Diñeiro M et al.

Acta Ophthalmologica, 2020

32483926 (PubMed )
Supplement: AOS-98-e1034-s012.xlsx › Table_S12

A new approach based on targeted pooled DNA sequencing identifies novel mutations in patients with Inherited Retinal Dystrophies.

Ezquerra-Inchausti M et al.

Scientific Reports, 2018

30337596 (PubMed )
Supplement: 41598_2018_33810_MOESM1_ESM.pdf

Genetic high throughput screening in Retinitis Pigmentosa based on high resolution melting (HRM) analysis.

Anasagasti A et al.

Experimental Eye Research, 2013

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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."