Publications:

Transgelin: a new gene involved in LDL endocytosis identified by a genome-wide CRISPR-Cas9 screen.

Journal Of Lipid Research

Lucero, Diego D; Dikilitas, Ozan O; Mendelson, Michael M MM; Aligabi, Zahra Z; Islam, Promotto P; Neufeld, Edward B EB; Bansal, Aruna T AT; Freeman, Lita A LA; Vaisman, Boris B; Tang, Jingrong J; Combs, Christian A CA; Li, Yuesheng Y; Voros, Szilard S; Kullo, Iftikhar J IJ; Remaley, Alan T AT

Publication Date: 2022-01

Variant appearance in text: rs2269397

PubMed Link: 34902367

Variant Present in the following documents:

• Main text
• main.pdf

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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: rs2269397

PubMed Link: 30319441

Variant Present in the following documents:

• Table_5.xlsx, sheet 1

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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: rs2269397

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

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Integrated genomic analysis of sézary syndrome.

Genetics Research International

Mao, Xin X; Chaplin, Tracy T; Young, Bryan D BD

Publication Date: 2011

Variant appearance in text: rs2269397

PubMed Link: 22567373

Variant Present in the following documents:

• Main text
• GRI2011-980150.pdf

View BVdb publication page