Varaico: Literature-Extracted Genetic Variants

Gene:IBTK
Variant:p.V242I
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IBTK

NM_015525.4:p.V242I

Associated Papers

The landscape of RNA binding proteins in mammalian spermatogenesis.

Li Y et al.

Science (new York, N.y.), 2024

39208083 (PubMed )
Supplement: science.adj8172_tables_s1_to_s16.zip › science.adj8172_table_s14.xlsx › Candidate_Hom_DNS_LOF

A Gly684Ala substitution in the androgen receptor is the cause for azoospermia in a Chinese family with mild androgen insensitivity syndrome and normal hormone levels.

Yuan Y et al.

Frontiers in Genetics, 2022

36159980 (PubMed )
Supplement: Table1.XLSX › SNP

Cronkhite-Canada syndrome complicated with three malignant tumors: a case report and whole exome sequencing analysis.

Liu S et al.

Chinese Medical Journal, 2019

31764169 (PubMed )
Supplement: cm9-132-3001-s001.xlsx › Supplementary_Table_1
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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."