Varaico: Literature-Extracted Genetic Variants

Gene:POMGNT1
Variant:p.H184Y
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POMGNT1

NM_017739.4:p.H184Y

Associated Papers

Uncovering the genetic architecture of inherited retinal disease in a consanguineous Iranian cohort.

Vincke L et al.

Npj Genomic Medicine, 2025

40055385 (PubMed )
Supplement: 41525_2025_473_MOESM2_ESM.xlsx › Sheet1

Epilepsy genetics in the paediatric population of the Eastern Anatolia region of Turkey.

Yarali O et al.

Journal of Neurogenetics, 2024

Congenital Muscular Dystrophy due to Novel Compound Heterozygote Mutations in POMGNT1 Gene.

Işıkay S et al.

Journal of Pediatric Neurosciences, 0

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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."