Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.L99fs
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BRCA1

NM_007294.4:p.L99fs

Associated Papers

Differential Sensitivity of Germline and Somatic BRCA Variants to PARP Inhibitor in High-Grade Serous Ovarian Cancer.

Vendrell JA et al.

International Journal of Molecular Sciences, 2023

37762485 (PubMed )
Supplement: ijms-24-14181-s001.zip › Table_S2.xlsx › Supplementary_Table_2

Clinical and Neurophysiologic Phenotypes in Neonates With BRAT1 Encephalopathy.

Carapancea E et al.

Neurology, 2023

A review of the clinical spectrum of BRAT1 disorders and case of developmental and epileptic encephalopathy surviving into adulthood.

Fowkes R et al.

Epilepsy & Behavior Reports, 2022

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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."