Varaico: Literature-Extracted Genetic Variants

Gene:TSC2
Variant:p.Q503*
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TSC2

NM_000548.5:p.Q503*

Associated Papers

Indeterminate DC histiocytosis is distinct from LCH and often associated with other hematopoietic neoplasms.

Ozkaya N et al.

Blood Advances, 2024

39361706 (PubMed )
Supplement: BLOODA_ADV-2024-013545-mmc1.xlsx › Sheet1

Renal phenotypes correlate with genotypes in unrelated individuals with tuberous sclerosis complex in China.

Luo C et al.

Orphanet Journal of Rare Diseases, 2022

35870981 (PubMed )
Supplement: 13023_2022_2443_MOESM1_ESM.xlsx › tsc2

Analysis of renal lesions in Chinese tuberous sclerosis complex patients with different types of TSC gene mutations.

Wang W et al.

Genetics and Molecular Biology, 2022

Germline mutation of TSC1 or TSC2 gene in Chinese patients with bilateral renal angiomyolipomas and mutation spectrum of Chinese TSC patients.

Jiangyi W et al.

Aging, 2020

31927531 (PubMed )
Supplement: aging-12-102654-s001..xlsx › supplementary_table1

A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.

Zheng J et al.

Molecular Genetics & Genomic Medicine, 2019

31165590 (PubMed )
Supplement: MGG3-7-e00748-s004.xlsx › Variants_information

The genomic landscape of tuberous sclerosis complex.

Martin KR et al.

Nature Communications, 2017

28643795 (PubMed )
Supplement: ncomms15816-s3.xlsx › Supp_Data_2

Assessment of Tuberous Sclerosis Complex Associated With Renal Lesions by Targeted Next-generation Sequencing in Mainland China.

Cai Y et al.

Urology, 2017

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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."