Varaico: Literature-Extracted Genetic Variants

Gene:DHRS4L2
Variant:p.E94K
Back to variants list

DHRS4L2

NM_198083.4:p.E94K

Associated Papers

Whole-exome profiles of inflammatory breast cancer and pathological response to neoadjuvant chemotherapy.

Bertucci F et al.

Journal of Translational Medicine, 2024

39465437 (PubMed )
Supplement: 12967_2024_5790_MOESM2_ESM.xlsx › Table_S2

Family-Based Whole-Exome Analysis of Specific Language Impairment (SLI) Identifies Rare Variants in BUD13, a Component of the Retention and Splicing (RES) Complex.

Andres EM et al.

Brain Sciences, 2021

35053791 (PubMed )
Supplement: brainsci-12-00047-s001.zip › brainsci-1490268_Tables_S1-7_Dec29-2021.xlsx › Table_S5._89var_14q_locus
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."