Varaico: Literature-Extracted Genetic Variants

Gene:POMGNT1
Variant:p.E102*
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POMGNT1

NM_017739.4:p.E102*

Associated Papers

Prime editing-installed suppressor tRNAs for disease-agnostic genome editing.

Pierce SE et al.

Nature, 2025

41261131 (PubMed )
Supplement: 41586_2025_9732_MOESM17_ESM.xlsx › Sequence_Context_Screen

Unravelling the genetic causes of multiple malformation syndromes: A whole exome sequencing study of the Cypriot population.

Kritioti E et al.

Plos One, 2021

The "Z"-Shaped Brainstem-A Tale of Two Distinct Gene Mutations.

Chatur C et al.

Neurology India, 0

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