Varaico: Literature-Extracted Genetic Variants

Gene:C9orf50
Variant:p.R312Q
Back to variants list

C9orf50

NM_199350.4:p.R312Q

Associated Papers

Loss of tissue-type plasminogen activator causes multiple developmental anomalies.

Uguen K et al.

Brain Communications, 2024

39574431 (PubMed )
Supplement: fcae408_supplementary_data.zip › Supplementary_Table_1.xlsx › Supplementary_Table_1

Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families.

Fang Y et al.

Frontiers in Genetics, 2023

37007936 (PubMed )
Supplement: Table3.XLSX › Sheet1
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."