Varaico: Literature-Extracted Genetic Variants

Gene:PRDM13
Variant:p.S38L
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PRDM13

NM_021620.4:p.S38L

Associated Papers

Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.

Hitti-Malin RJ et al.

Biomolecules, 2024

38540785 (PubMed )
Supplement: biomolecules-14-00367-s001.zip › Supplementary_Table_S2-Possibly_and_very_likely_solved_probands.xlsx › Sheet1

Genetic screening for macular dystrophies in patients clinically diagnosed with dry age-related macular degeneration.

Kersten E et al.

Clinical Genetics, 2018

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