Varaico: Literature-Extracted Genetic Variants

Gene:REST
Variant:p.I747M
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REST

NM_005612.5:p.I747M

Associated Papers

The PARP1 selective inhibitor saruparib (AZD5305) elicits potent and durable antitumor activity in patient-derived BRCA1/2-associated cancer models.

Herencia-Ropero A et al.

Genome Medicine, 2024

39187844 (PubMed )
Supplement: 13073_2024_1370_MOESM3_ESM.xlsx › SNV

Identification of biallelic variations of CEP70 in patients with male infertility.

Ruan T et al.

Frontiers in Endocrinology, 2023

36967801 (PubMed )
Supplement: Table_2.xlsx › Patient_1

MITF variants cause nonsyndromic sensorineural hearing loss with autosomal recessive inheritance.

Thongpradit S et al.

Scientific Reports, 2020

32728090 (PubMed )
Supplement: 41598_2020_69633_MOESM1_ESM.pdf
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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."