Varaico: Literature-Extracted Genetic Variants

Gene:DOK7
Variant:p.S193G
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DOK7

NM_173660.5:p.S193G

Associated Papers

Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders.

Jurgens JA et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

38585811 (PubMed )
Supplement: media-3.xlsx › Sheet1

MAGI-ACMG: Algorithm for the Classification of Variants According to ACMG and ACGS Recommendations.

Cristofoli F et al.

Genes, 2023

37628650 (PubMed )
Supplement: genes-14-01600-s001.zip › genes-2481925-supplementary.xlsx › totale
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