Varaico: Literature-Extracted Genetic Variants

Gene:KIAA1614
Variant:p.S326F
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KIAA1614

NM_020950.2:p.S326F

Associated Papers

A novel de novo TP63 mutation in whole-exome sequencing of a Syrian family with Oral cleft and ectrodactyly.

Simpson CL et al.

Molecular Genetics & Genomic Medicine, 2023

37070724 (PubMed )
Supplement: MGG3-11-e2179-s002.xlsx › Supplementary_Table_S2

Whole exome sequencing in Finnish families identifies new candidate genes for osteoarthritis.

Skarp S et al.

Plos One, 2018

30157244 (PubMed )
Supplement: pone.0203313.s001.xlsx › Family11_SNPs
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