Varaico: Literature-Extracted Genetic Variants

Gene:DHRS4L2
Variant:p.L210insFs
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DHRS4L2

NM_198083.4:p.L210insFs

Associated Papers

Molecular characterization of sub-frontal recurrent medulloblastomas reveals potential clinical relevance.

Chen Z et al.

Frontiers in Neurology, 2023

37181548 (PubMed )
Supplement: Data_Sheet_2.xlsx › Germline_mutation-case_1

Homozygous mutations in C14orf39/SIX6OS1 cause non-obstructive azoospermia and premature ovarian insufficiency in humans.

Fan S et al.

American Journal of Human Genetics, 2021

The driver landscape of sporadic chordoma.

Tarpey PS et al.

Nature Communications, 2017

29026114 (PubMed )
Supplement: 41467_2017_1026_MOESM5_ESM.xlsx › ST2

Autozygome sequencing expands the horizon of human knockout research and provides novel insights into human phenotypic variation.

Alsalem AB et al.

Plos Genetics, 2013

24367280 (PubMed )
Supplement: pgen.1004030.s004.xlsx › Sheet1
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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."