Varaico: Literature-Extracted Genetic Variants

Gene:SRSF2
Variant:p.E35D
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SRSF2

NM_001195427.2:p.E35D

Associated Papers

Genetic architecture of telomere length in 462,666 UK Biobank whole-genome sequences.

Burren OS et al.

Nature Genetics, 2024

39192095 (PubMed )
Supplement: 41588_2024_1884_MOESM4_ESM.xlsx › ST17_CH_QV

A novel mutation in the DNASE1 gene is related with protein instability and decreased enzyme activity in thyroid autoimmunity.

Dittmar M et al.

Journal of Autoimmunity, 2009

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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."