Varaico: Literature-Extracted Genetic Variants

Gene:GUCY2D
Variant:p.M1T
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GUCY2D

NM_000180.4:p.M1T

Associated Papers

A comprehensive genetic landscape of inherited retinal diseases in a large Pakistani cohort.

Ullah M et al.

Npj Genomic Medicine, 2025

40180963 (PubMed )
Supplement: 41525_2025_488_MOESM2_ESM.xlsx › Sheet1

Molecular Diagnosis of 34 Japanese Families with Leber Congenital Amaurosis Using Targeted Next Generation Sequencing.

Hosono K et al.

Scientific Reports, 2018

29844330 (PubMed )
Supplement: 41598_2018_26524_MOESM1_ESM.docx
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