Varaico: Literature-Extracted Genetic Variants

Gene:SNX31
Variant:p.W321delFs
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SNX31

NM_152628.4:p.W321delFs

Associated Papers

An SNX31 variant underlies dominant familial exudative vitreoretinopathy-like pathogenesis.

Xu N et al.

Jci Insight, 2023

Renal hypouricemia caused by novel compound heterozygous mutations in the SLC22A12 gene: a case report with literature review.

Zhou Z et al.

Bmc Medical Genetics, 2018

30097038 (PubMed )
Supplement: 12881_2018_595_MOESM1_ESM.xlsx › Sheet2

Macular Morphological Changes in Familial Exudative Vitreoretinopathy with Macular Traction on OCT.

Hirai A et al.

Case Reports in Ophthalmology, 0

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