Varaico: Literature-Extracted Genetic Variants

Gene:IMPDH1
Variant:p.V243I
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IMPDH1

NM_000883.4:p.V243I

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

37259572 (PubMed )
Supplement: supplement_1.pdf

An Ophthalmic Targeted Exome Sequencing Panel as a Powerful Tool to Identify Causative Mutations in Patients Suspected of Hereditary Eye Diseases.

Wang P et al.

Translational Vision Science & Technology, 2019

31106028 (PubMed )
Supplement: tvst-08-02-12_s02.xlsx › FINAL-AD-AR-XL-ONE
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