Publications:

Molecular insights into the role of genetic determinants of congenital hypothyroidism.

Genomics & Informatics

Kollati, Yedukondalu Y; Akella, Radha Rama Devi RRD; Naushad, Shaik Mohammad SM; Patel, Rajesh K RK; Reddy, G Bhanuprakash GB; Dirisala, Vijaya R VR

Publication Date: 2021-09

Variant appearance in text: rs2268477

PubMed Link: 34638176

Variant Present in the following documents:

• Main text
• gi-21034suppl2.pdf
• gi-21034.pdf

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Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology

Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA

Publication Date: 2021

Variant appearance in text: rs2268477

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

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Next-generation sequencing identified novel Desmoplakin frame-shift variant in patients with Arrhythmogenic cardiomyopathy.

Bmc Cardiovascular Disorders

Lin, Xiaoping X; Ma, Yuankun Y; Cai, Zhejun Z; Wang, Qiyuan Q; Wang, Lihua L; Huo, Zhaoxia Z; Hu, Dan D; Wang, Jian'an J; Xiang, Meixiang M

Publication Date: 2020-02-11

Variant appearance in text: rs2268477

PubMed Link: 32046637

Variant Present in the following documents:

• 12872_2020_1369_MOESM1_ESM.xlsx, sheet 1

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PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology

Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S

Publication Date: 2019-10-22

Variant appearance in text: rs2268477

PubMed Link: 31640808

Variant Present in the following documents:

• 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1

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Inherited variants in genes somatically mutated in thyroid cancer.

Plos One

Campo, Chiara C; Köhler, Aleksandra A; Figlioli, Gisella G; Elisei, Rossella R; Romei, Cristina C; Cipollini, Monica M; Bambi, Franco F; Hemminki, Kari K; Gemignani, Federica F; Landi, Stefano S; Försti, Asta A

Publication Date: 2017

Variant appearance in text: rs2268477

PubMed Link: 28410400

Variant Present in the following documents:

• Main text
• pone.0174995.pdf

View BVdb publication page