Varaico: Literature-Extracted Genetic Variants

Gene:P3H2
Variant:p.R405*
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P3H2

NM_018192.4:p.R405*

Associated Papers

LEPREL1 -RELATED GIANT RETINAL TEAR DETACHMENTS MIMIC THE PHENOTYPE OF OCULAR STICKLER SYNDROME.

Magliyah MS et al.

Retina (philadelphia, Pa.), 2023

Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis.

Panneman DM et al.

Frontiers in Cell and Developmental Biology, 2023

36819107 (PubMed )
Supplement: Table3.XLSX › Sheet1

Genetic causes of inherited retinal diseases among Israeli Jews of Ethiopian ancestry.

Ben Yosef T et al.

Molecular Vision, 2023

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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."