Varaico: Literature-Extracted Genetic Variants

Gene:KIAA1217
Variant:p.A914P
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KIAA1217

NM_019590.5:p.A914P

Associated Papers

KIAA1217: A novel candidate gene associated with isolated and syndromic vertebral malformations.

Al Dhaheri N et al.

American Journal of Medical Genetics. Part A, 2020

Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.

Fichna JP et al.

Human Genomics, 2018

29970176 (PubMed )
Supplement: 40246_2018_167_MOESM3_ESM.xlsx › skeletal_muscle
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