Varaico: Literature-Extracted Genetic Variants

Gene:SEZ6L
Variant:p.R188Q
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SEZ6L

NM_021115.5:p.R188Q

Associated Papers

Clinical Manifestations of Alport Syndrome-Diffuse Leiomyomatosis Patients With Contiguous Gene Deletions in COL4A6 and COL4A5.

Zhou X et al.

Frontiers in Medicine, 2021

34778325 (PubMed )
Supplement: Data_Sheet_2.PDF

Mutational signatures and the genomic landscape of betel quid chewing-associated tongue carcinoma.

Zhang W et al.

Cancer Medicine, 2019

30672146 (PubMed )
Supplement: CAM4-8-701-s012.xlsx › Table_S11

Identification of unbalanced genome copy number abnormalities in patients with multiple myeloma by single-nucleotide polymorphism genotyping microarray analysis.

Kamada Y et al.

International Journal of Hematology, 2012

Identification of a 428-kb homozygously deleted region disrupting the SEZ6L gene at 22q12.1 in a lung cancer cell line.

Nishioka M et al.

Oncogene, 2000

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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."