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: NCAPD2: 1955-106G>A; rs2072373

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

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: NCAPD2: 1955-106G>A; rs2072373

PubMed Link: 30319441

Variant Present in the following documents:

• 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: rs2072373

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports

Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC

Publication Date: 2015-12-08

Variant appearance in text: rs2072373

PubMed Link: 26549847

Variant Present in the following documents:

• mmc3.xlsx, sheet 3
• mmc3.xlsx, sheet 1
• mmc3.xlsx, sheet 2

View BVdb publication page

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Further examination of the candidate genes in chromosome 12p13 locus for late-onset Alzheimer disease.

Neurogenetics

Lee, Joseph H JH; Cheng, Rong R; Rogaeva, Ekaterina E; Meng, Yan Y; Stern, Yaakov Y; Santana, Vincent V; Lantigua, Rafael R; Medrano, Martin M; Jimenez-Velazquez, Ivonne Z IZ; Farrer, Lindsay A LA; St George-Hyslop, Peter P; Mayeux, Richard R

Publication Date: 2008-05

Variant appearance in text: rs2072373

PubMed Link: 18340469

Variant Present in the following documents:

• Main text

View BVdb publication page

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Association of late-onset Alzheimer's disease with genetic variation in multiple members of the GAPD gene family.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Li, Yonghong Y; Nowotny, Petra P; Holmans, Peter P; Smemo, Scott S; Kauwe, John S K JS; Hinrichs, Anthony L AL; Tacey, Kristina K; Doil, Lisa L; van Luchene, Ryan R; Garcia, Veronica V; Rowland, Charles C; Schrodi, Steve S; Leong, Diane D; Gogic, Goran G; Chan, Joanne J; Cravchik, Anibal A; Ross, David D; Lau, Kit K; Kwok, Shirley S; Chang, Sheng-Yung SY; Catanese, Joe J; Sninsky, John J; White, Thomas J TJ; Hardy, John J; Powell, John J; Lovestone, Simon S; Morris, John C JC; Thal, Leon L; Owen, Michael M; Williams, Julie J; Goate, Alison A; Grupe, Andrew A

Publication Date: 2004-11-02

Variant appearance in text: rs2072373

PubMed Link: 15507493

Variant Present in the following documents:

• Main text

View BVdb publication page

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