Varaico: Literature-Extracted Genetic Variants

Gene:DOCK9
Variant:p.Q240_N241Splc
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DOCK9

NM_015296.3:p.Q240_N241Splc

Associated Papers

Molecular Screening of Keratoconus Susceptibility Sequence Variants in VSX1, TGFBI, DOCK9, STK24, and IPO5 Genes in Polish Patients and Novel TGFBI Variant Identification.

Karolak JA et al.

Ophthalmic Genetics, 2016

Novel mutation and three other sequence variants segregating with phenotype at keratoconus 13q32 susceptibility locus.

Czugala M et al.

European Journal of Human Genetics : Ejhg, 2012

Sequence variants in COL4A1 and COL4A2 genes in Ecuadorian families with keratoconus.

Karolak JA et al.

Molecular Vision, 2011

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