Varaico: Literature-Extracted Genetic Variants

Gene:TMEM132D
Variant:p.D188N
Back to variants list

TMEM132D

NM_133448.3:p.D188N

Associated Papers

Deafness DFNB128 Associated with a Recessive Variant of Human MAP3K1 Recapitulates Hearing Loss of Map3k1-Deficient Mice.

Faridi R et al.

Genes, 2024

39062623 (PubMed )
Supplement: genes-15-00845-s001.zip › genes-3045527-Table_S4.xlsx › PKDF1419_SumandMuh_121423_Genet

Rapamycin Controls Lymphoproliferation and Reverses T-Cell Responses in a Patient with a Novel STIM1 Loss-of-Function Deletion.

Karakus IS et al.

Journal of Clinical Immunology, 2024

38578569 (PubMed )
Supplement: 10875_2024_1682_MOESM4_ESM.xlsx › All_biallelic
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."