Varaico: Literature-Extracted Genetic Variants

Gene:KIAA0319
Variant:p.S244L
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KIAA0319

NM_014809.4:p.S244L

Associated Papers

LRP1B mutation is associated with tumor HPV status and promotes poor disease outcomes with a higher mutation count in HPV-related cervical carcinoma and head & neck squamous cell carcinoma.

Cao CH et al.

International Journal of Biological Sciences, 2021

33994859 (PubMed )
Supplement: ijbsv17p1744s2.xls › S3_Me180_mutation_genes

Novel compound heterozygous mutations in WDR62 gene leading to developmental delay and Primary Microcephaly in Saudi Family.

Naseer MI et al.

Pakistan Journal of Medical Sciences, 2019

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