Varaico: Literature-Extracted Genetic Variants

Gene:CSMD2
Variant:p.R3222H
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CSMD2

NM_001281956.2:p.R3222H

Associated Papers

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: Table2.XLSX › Sheet1

Analysis of recent shared ancestry in a familial cohort identifies coding and noncoding autism spectrum disorder variants.

Tuncay IO et al.

Npj Genomic Medicine, 2022

35190550 (PubMed )
Supplement: 41525_2022_284_MOESM2_ESM.xlsx › Supplementary_Table_9
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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."