Publications:

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Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics

Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F

Publication Date: 2021

Variant appearance in text: BLVRA: 13-89G>A; rs849165

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Novel germline TRAF3IP3 mutation in a dyad with familial acute B lymphoblastic leukemia.

Cancer Reports (Hoboken, N.J.)

Pommert, Lauren L; Burns, Robert R; Furumo, Quinlan Q; Pulakanti, Kirthi K; Brandt, Jon J; Burke, Michael J MJ; Rao, Sridhar S

Publication Date: 2021-06

Variant appearance in text: BLVRA: 13-89G>A; rs849165

PubMed Link: 33503336

Variant Present in the following documents:

• CNR2-4-e1335-s003.xlsx, sheet 2

View BVdb publication page

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Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology

Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P

Publication Date: 2018

Variant appearance in text: BLVRA: 13-89G>A; rs849165

PubMed Link: 30319441

Variant Present in the following documents:

• Table_7.xlsx, sheet 1
• Table_6.xlsx, sheet 1

View BVdb publication page

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Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation

Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H

Publication Date: 2017

Variant appearance in text: rs849165

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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Exploring genome-wide - dietary heme iron intake interactions and the risk of type 2 diabetes.

Frontiers In Genetics

Pasquale, Louis R LR; Loomis, Stephanie J SJ; Aschard, Hugues H; Kang, Jae H JH; Cornelis, Marilyn C MC; Qi, Lu L; Kraft, Peter P; Hu, Frank B FB

Publication Date: 2013

Variant appearance in text: rs849165

PubMed Link: 23386860

Variant Present in the following documents:

• Main text
• fgene-04-00007.pdf

View BVdb publication page

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Global analysis of the impact of environmental perturbation on cis-regulation of gene expression.

Plos Genetics

Grundberg, Elin E; Adoue, Veronique V; Kwan, Tony T; Ge, Bing B; Duan, Qing Ling QL; Lam, Kevin C L KC; Koka, Vonda V; Kindmark, Andreas A; Weiss, Scott T ST; Tantisira, Kelan K; Mallmin, Hans H; Raby, Benjamin A BA; Nilsson, Olle O; Pastinen, Tomi T

Publication Date: 2011-01-20

Variant appearance in text: rs849165

PubMed Link: 21283786

Variant Present in the following documents:

• Main text
• pgen.1001279.pdf

View BVdb publication page

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