Varaico: Literature-Extracted Genetic Variants

Gene:IMPDH1
Variant:p.K323M
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IMPDH1

NM_000883.4:p.K323M

Associated Papers

IMPDH1-associated autosomal dominant retinitis pigmentosa: natural history of novel variant Lys314Gln and a comprehensive literature search.

Sakti DH et al.

Ophthalmic Genetics, 2023

Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration.

Ma DJ et al.

Bmc Medical Genomics, 2021

33691693 (PubMed )
Supplement: 12920_2021_874_MOESM1_ESM.xlsx › Sheet1
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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."