Varaico: Literature-Extracted Genetic Variants

Gene:MKKS
Variant:p.L445*
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MKKS

NM_170784.3:p.L445*

Associated Papers

Characterizing Homozygous Variants in Bardet-Biedl Syndrome-Associated Genes Within Iranian Families: Unveiling a Founder Variant in BBS2, c.471G>A.

Feizabadi MH et al.

Biochemical Genetics, 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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