Varaico: Literature-Extracted Genetic Variants

Gene:ZNF710
Variant:p.E50Q
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ZNF710

NM_198526.4:p.E50Q

Associated Papers

Genetic Investigation and Transcriptome Profiling in a Nuclear Family With Peutz-Jeghers Syndrome.

Khan TN et al.

Human Mutation, 2025

40860288 (PubMed )
Supplement: 5530710.f1.zip › Khan_et_al__Supplementary_Table_3_R3_ES.pdf

Recessive coding and regulatory mutations in FBLIM1 underlie the pathogenesis of chronic recurrent multifocal osteomyelitis (CRMO).

Cox AJ et al.

Plos One, 2017

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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."