Varaico: Literature-Extracted Genetic Variants

Gene:CSRP3
Variant:p.S126L
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CSRP3

NM_003476.5:p.S126L

Associated Papers

Large next-generation sequencing gene panels in genetic heart disease: yield of pathogenic variants and variants of unknown significance.

van Lint FHM et al.

Netherlands Heart Journal : Monthly Journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation, 2019

30847666 (PubMed )
Supplement: 12471_2019_1250_MOESM2_ESM.xlsx › Blad1

A novel association of campomelic dysplasia and hydrocephalus with an unbalanced chromosomal translocation upstream of SOX9.

Antwi P et al.

Cold Spring Harbor Molecular Case Studies, 2018

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