Publications:

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: ESR1: 1236-112A>G; rs9322354

PubMed Link: 30319441

Variant Present in the following documents:

• Table_7.xlsx, sheet 1
• Table_5.xlsx, sheet 1

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NELFCD and CTSZ loci are associated with jaundice-stage progression in primary biliary cholangitis in the Japanese population.

Scientific Reports

Nishida, Nao N; Aiba, Yoshihiro Y; Hitomi, Yuki Y; Kawashima, Minae M; Kojima, Kaname K; Kawai, Yosuke Y; Ueno, Kazuko K; Nakamura, Hitomi H; Yamashiki, Noriyo N; Tanaka, Tomohiro T; Tamura, Sumito S; Mori, Akira A; Yagi, Shintaro S; Soejima, Yuji Y; Yoshizumi, Tomoharu T; Takatsuki, Mitsuhisa M; Tanaka, Atsushi A; Harada, Kenichi K; Shimoda, Shinji S; Komori, Atsumasa A; Eguchi, Susumu S; Maehara, Yoshihiko Y; Uemoto, Shinji S; Kokudo, Norihiro N; Nagasaki, Masao M; Tokunaga, Katsushi K; Nakamura, Minoru M

Publication Date: 2018-05-23

Variant appearance in text: rs9322354

PubMed Link: 29795304

Variant Present in the following documents:

• Main text
• 41598_2018_Article_26369.pdf

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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: rs9322354

PubMed Link: 26549847

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page