Varaico: Literature-Extracted Genetic Variants

Gene:CLTCL1
Variant:p.R1165C
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CLTCL1

NM_007098.4:p.R1165C

Associated Papers

Whole Exome Sequencing of Multiple Atypical Meningiomas in a Patient without History of Neurofibromatosis Type II: A Case Report.

Lyu J et al.

The American Journal of Case Reports, 2020

De Novo Germline Mutations in SEMA5A Associated With Infantile Spasms.

Wang Q et al.

Frontiers in Genetics, 2019

Analysis of protein-coding genetic variation in 60,706 humans.

Lek M et al.

Nature, 2016

27535533 (PubMed )
Supplement: NIHMS798561-supplement-supp_table20.xlsx › SI_Table_20
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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."