Varaico: Literature-Extracted Genetic Variants

Gene:ESPNL
Variant:p.S633L
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ESPNL

NM_194312.4:p.S633L

Associated Papers

Mutation profile and chromosomal abnormality in adenomyosis.

Suda K et al.

Reproduction (cambridge, England), 2025

40679511 (PubMed )
Supplement: supplementary_tables_1-12.xlsx › Suppl.Table_8

Whole exome sequencing identified mutations causing hearing loss in five consanguineous Pakistani families.

Zhou Y et al.

Bmc Medical Genetics, 2020

32682410 (PubMed )
Supplement: 12881_2020_1087_MOESM1_ESM.xlsx › HL4
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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."