Varaico: Literature-Extracted Genetic Variants

Gene:GDF5
Variant:p.A276S
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GDF5

NM_000557.5:p.A276S

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

Loss-of-function variant in TDRD6 cause male infertility with severe oligo-astheno-teratozoospermia in human and mice.

Bi X et al.

Journal of Cellular and Molecular Medicine, 2024

39331689 (PubMed )
Supplement: JCMM-28-e18580-s001.docx

Height-Related Polygenic Variants Are Associated with Metabolic Syndrome Risk and Interact with Energy Intake and a Rice-Main Diet to Influence Height in KoGES.

Park S

Nutrients, 2023

Protein-coding variants implicate novel genes related to lipid homeostasis contributing to body-fat distribution.

Justice AE et al.

Nature Genetics, 2019

30778226 (PubMed )
Supplement: NIHMS1016010-supplement-SupplementaryData17.xlsx › SD17._VEP_annotation

Efficient Mining of Variants From Trios for Ventricular Septal Defect Association Study.

Jiang P et al.

Frontiers in Genetics, 2019

31440271 (PubMed )
Supplement: Table_1.xlsx › SS-based_coding_variants
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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."