Varaico: Literature-Extracted Genetic Variants

Gene:POMGNT1
Variant:p.R488*
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POMGNT1

NM_017739.4:p.R488*

Associated Papers

Decoding the Genetic Puzzle of Inherited Retinal Dystrophies: Novel Insights From a Turkish Cohort.

Demir Ş et al.

Clinical Genetics, 2025

Prospect of genetic disorders in Saudi Arabia.

Alqahtani AS et al.

Frontiers in Genetics, 2023

37799141 (PubMed )
Supplement: Table1.xlsx › Supplementary_table_1._
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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."