Varaico: Literature-Extracted Genetic Variants

Gene:POMGNT1
Variant:p.R485H
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POMGNT1

NM_017739.4:p.R485H

Associated Papers

18-Years of single-centre DNA testing in over 7000 index cases with inherited retinal dystrophies and optic neuropathies.

Kiel C et al.

Scientific Reports, 2024

39462066 (PubMed )
Supplement: 41598_2024_77014_MOESM2_ESM.xlsx › unsolved_patients

Whole genome mapping and identification of single nucleotide polymorphisms of four Bangladeshi individuals and their functional significance.

Khan S et al.

Bmc Research Notes, 2021

33743798 (PubMed )
Supplement: 13104_2021_5514_MOESM4_ESM.zip › Supplementary_File_1B-6.xlsx › Supplementary_File_1B-6.exonic_
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