Varaico: Literature-Extracted Genetic Variants

Gene:MKKS
Variant:p.A552D
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MKKS

NM_170784.3:p.A552D

Associated Papers

Diagnostic whole exome sequencing in presumably autosomal recessive inherited retinal dystrophies in an Iranian population.

Heutinck PAT et al.

Scientific Reports, 2025

Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.

Abolhassani A et al.

Npj Genomic Medicine, 2024

38374194 (PubMed )
Supplement: 41525_2024_393_MOESM3_ESM.xlsx › Supplementary_Table_2
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