Publications:

Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report.

Bmc Neurology

Zhang, Xiaoqian X; Zhang, Lei L; Wu, Yanqing Y; Li, Gang G; Chen, Shengcai S; Xia, Yuanpeng Y; Li, Hongge H

Publication Date: 2018-11-29

Variant appearance in text: KCNQ1: S546S

PubMed Link: 30497413

Variant Present in the following documents:

• 12883_2018_1199_MOESM5_ESM.xlsx, sheet 1

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Sequence Alterations of I(Ks) Potassium Channel Genes in Kazakhstani Patients with Atrial Fibrillation.

Central Asian Journal Of Global Health

Akilzhanova, Ainur A; Rakhimova, Saule S; Abilova, Zhannur Z; Nuralinov, Omirbek O; Rashbayeva, Gulzhaina G; Abdrakhmanov, Ayan A; Bekbosynova, Mahabbat M

Publication Date: 2014

Variant appearance in text: KCNQ1: S546S

PubMed Link: 29805884

Variant Present in the following documents:

• cajgh-03-147.pdf

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Genotype-phenotype correlation in long QT syndrome families.

Indian Pacing And Electrophysiology Journal

Qureshi, Sameera Fatima SF; Ali, Altaf A; Venkateshwari, Ananthapur A; Rao, Hygriv H; Jayakrishnan, M P MP; Narasimhan, Calambur C; Shenthar, Jayaprakash J; Thangaraj, Kumarasamy K; Nallari, Pratibha P

Publication Date: 2015

Variant appearance in text: KCNQ1: S546S

PubMed Link: 27479201

Variant Present in the following documents:

• Main text
• main.pdf

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