Varaico: Literature-Extracted Genetic Variants

Gene:COL10A1
Variant:p.C591G
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COL10A1

NM_000493.4:p.C591G

Associated Papers

Characterization of a novel COL10A1 variant associated with Schmid-type metaphyseal chondrodysplasia and a literature review.

Wu H et al.

Molecular Genetics & Genomic Medicine, 2021

What is the right sequencing approach? Solo VS extended family analysis in consanguineous populations.

Alfares A et al.

Bmc Medical Genomics, 2020

32680510 (PubMed )
Supplement: 12920_2020_743_MOESM3_ESM.xlsx › Sheet1

Applying filtration steps to interpret the results of whole-exome sequencing in a consanguineous population to achieve a high detection rate.

Alfares AA

International Journal of Health Sciences, 0

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