Varaico: Literature-Extracted Genetic Variants

Gene:NSD1
Variant:p.H1104R
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NSD1

NM_022455.5:p.H1104R

Associated Papers

NSD1 gene evolves under episodic selection within primates and mutations of specific exons in humans cause Sotos syndrome.

Romero VI et al.

Bmc Genomics, 2022

36550402 (PubMed )
Supplement: 12864_2022_9071_MOESM2_ESM.xlsx › Sup_Table_7

Systematic assessment and optimizing algorithm of tumor mutational burden calculation and their implications in clinical decision-making.

Sun D et al.

Frontiers in Oncology, 2022

36425562 (PubMed )
Supplement: Table_3.xlsx › Sheet1

Investigation of PALB2 Mutation and Correlation With Immunotherapy Biomarker in Chinese Non-Small Cell Lung Cancer Patients.

Zhang J et al.

Frontiers in Oncology, 2021

35087742 (PubMed )
Supplement: Table_1.xlsx › Table3_mut_frequency_v3

NOTCH2 variant D1853H is mutated in two non-syndromic premature ovarian insufficiency patients from a Chinese pedigree.

Li L et al.

Journal of Ovarian Research, 2020

32312275 (PubMed )
Supplement: 13048_2020_645_MOESM4_ESM.xlsx › Supp_Table_1

PHACTR1 is associated with disease progression in Chinese Moyamoya disease.

Yang Y et al.

Peerj, 2020

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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."