Varaico: Literature-Extracted Genetic Variants

Gene:KATNIP
Variant:p.A1240V
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KATNIP

NM_015202.5:p.A1240V

Associated Papers

Identical IFT140 Variants Cause Variable Skeletal Ciliopathy Phenotypes-Challenges for the Accurate Diagnosis.

Walczak-Sztulpa J et al.

Frontiers in Genetics, 2022

35873489 (PubMed )
Supplement: DataSheet1.docx

Exome sequencing of a family with lone, autosomal dominant atrial flutter identifies a rare variation in ABCB4 significantly enriched in cases.

Maciąg A et al.

Bmc Genetics, 2015

25888430 (PubMed )
Supplement: 12863_2015_177_MOESM1_ESM.xls › Sheet1
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