Varaico: Literature-Extracted Genetic Variants

Gene:CHAT
Variant:p.S704del1
Back to variants list

CHAT

NM_020549.5:p.S704del1

Associated Papers

Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.

White JA et al.

Cancer Research Communications, 2022

36922933 (PubMed )
Supplement: crc-22-0136-s01.xlsx › ST9_Somatic_Variants

Clinical and Genetic Features of Congenital Myasthenic Syndromes due to CHAT Mutations: Case Report and Literature Review.

Arican P et al.

Neuropediatrics, 2018

Congenital myasthenic syndrome due to novel CHAT mutations in an ethnic kadazandusun family.

Tan JS et al.

Muscle & Nerve, 2016

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."