Varaico: Literature-Extracted Genetic Variants

Gene:CCDC177
Variant:p.L534_A536del3
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CCDC177

NM_001271507.2:p.L534_A536del3

Associated Papers

Whole exome sequencing reveals an FCGBP variant associated with spontaneous intraabdominal hemorrhage in severe acute pancreatitis.

Tang QY et al.

Imetaomics, 2025

41675706 (PubMed )
Supplement: IMO2-2-e52-s002.xlsx › 2D

ATR represents a therapeutic vulnerability in clear cell renal cell carcinoma.

Seidel P et al.

Jci Insight, 2022

36413415 (PubMed )
Supplement: jciinsight-7-156087-s060.xlsx › CAKI2

A de Novo ZMIZ1 Pathogenic Variant for Neurodevelopmental Disorder With Dysmorphic Facies and Distal Skeletal Anomalies.

Lu G et al.

Frontiers in Genetics, 2022

Truncating Variant in Myof Gene Is Associated With Limb-Girdle Type Muscular Dystrophy and Cardiomyopathy.

Kiselev A et al.

Frontiers in Genetics, 2019

31297131 (PubMed )
Supplement: Table_2.xlsx › ____1
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."