Varaico: Literature-Extracted Genetic Variants

Gene:COL2A1
Variant:p.A6D
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COL2A1

NM_001844.5:p.A6D

Associated Papers

Spectrum of DNA variants for patients with hearing loss in 4 language families of 15 ethnicities from Southwestern China.

Li J et al.

Heliyon, 2024

39640791 (PubMed )
Supplement: mmc1.xlsx › Unsolved__patients

Preliminary investigation into the genetic etiology of short stature in children through whole exon sequencing of the core family.

He J et al.

Open Life Sciences, 2024

Whole-exome sequencing reveals a comprehensive germline mutation landscape and identifies twelve novel predisposition genes in Chinese prostate cancer patients.

Liang Y et al.

Plos Genetics, 2022

36095024 (PubMed )
Supplement: pgen.1010373.s022.xlsx › S7_Table

Whole Exome Sequencing Analysis in Fetal Skeletal Dysplasia Detected by Ultrasonography: An Analysis of 38 Cases.

Peng Y et al.

Frontiers in Genetics, 2021

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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."