Varaico: Literature-Extracted Genetic Variants

Gene:ESPNL
Variant:p.Q492E
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ESPNL

NM_194312.4:p.Q492E

Associated Papers

Genetic variants in patients with multiple arterial aneurysms.

Körfer D et al.

Langenbeck's Archives of Surgery, 2024

39382597 (PubMed )
Supplement: 423_2024_3488_MOESM2_ESM.xlsx › Supplemental_Table_2

Genomic characterization of lymphomas in patients with inborn errors of immunity.

Ye X et al.

Blood Advances, 2022

35687490 (PubMed )
Supplement: advancesADV2021006654-suppl4.xlsx › PL21__PON_in_red_

Exome sequencing reveals variants in known and novel candidate genes for severe sperm motility disorders.

Oud MS et al.

Human Reproduction (oxford, England), 2021

34089056 (PubMed )
Supplement: deab099_supplementary_tables3.pdf
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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."