Varaico: Literature-Extracted Genetic Variants

Gene:RETSAT
Variant:p.F134fs
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RETSAT

NM_017750.4:p.F134fs

Associated Papers

Whole exome sequencing reveals novel variants associated with diminished ovarian reserve in young women.

Li N et al.

Frontiers in Genetics, 2023

NBAS, a gene involved in cytotoxic degranulation, is recurrently mutated in pediatric hemophagocytic lymphohistiocytosis.

Bi X et al.

Journal of Hematology & Oncology, 2022

35902954 (PubMed )
Supplement: 13045_2022_1318_MOESM2_ESM.xlsx › Table_S1

The GenomeAsia 100K Project enables genetic discoveries across Asia.

Unknown Author

Nature, 2019

31802016 (PubMed )
Supplement: 41586_2019_1793_MOESM3_ESM.xlsx › S5-Hom-PTVs
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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."