Varaico: Literature-Extracted Genetic Variants

Gene:COL4A2
Variant:p.M1419T
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COL4A2

NM_001846.4:p.M1419T

Associated Papers

Whole-exome sequencing uncovers the genetic basis of hereditary concomitant exotropia in ten Chinese pedigrees.

Duan W et al.

Bmc Medical Genomics, 2025

Identification of genetic polymorphisms in unexplained recurrent spontaneous abortion based on whole exome sequencing.

Mou JT et al.

Annals of Translational Medicine, 2022

Whole-exome Sequencing Helps the Diagnosis and Treatment in Children with Neurodevelopmental Delay Accompanied Unexplained Dyspnea.

Tong W et al.

Scientific Reports, 2018

29581464 (PubMed )
Supplement: 41598_2018_23503_MOESM1_ESM.xls › P9

TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome.

Boileau C et al.

Nature Genetics, 2012

22772371 (PubMed )
Supplement: NIHMS386390-supplement-1.pdf
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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."