Varaico: Literature-Extracted Genetic Variants

Gene:ITPR3
Variant:p.I2077S
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ITPR3

NM_002224.4:p.I2077S

Associated Papers

Cockayne syndrome without UV-sensitivity in Vietnamese siblings with novel ERCC8 variants.

Duong NT et al.

Aging, 2022

35748794 (PubMed )
Supplement: aging-14-204139-s001.xlsx › Table_1

Familial Temperature-Sensitive Auditory Neuropathy: Distinctive Clinical Courses Caused by Variants of the OTOF Gene.

Zhu YM et al.

Frontiers in Cell and Developmental Biology, 2021

34692690 (PubMed )
Supplement: Table_2.xlsx › Supplementary_Table_7

Discovery of rare coding variants in OGDHL and BRCA2 in relation to breast cancer risk in Chinese women.

Guo X et al.

International Journal of Cancer, 2020

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