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: MUC16: 43136+331T>G; rs1862456

PubMed Link: 30319441

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

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Lethal contractural syndrome type 3 (LCCS3) is caused by a mutation in PIP5K1C, which encodes PIPKI gamma of the phophatidylinsitol pathway.

American Journal Of Human Genetics

Narkis, Ginat G; Ofir, Rivka R; Landau, Daniella D; Manor, Esther E; Volokita, Micha M; Hershkowitz, Relly R; Elbedour, Khalil K; Birk, Ohad S OS

Publication Date: 2007-09

Variant appearance in text: rs1862456

PubMed Link: 17701898

Variant Present in the following documents:

• Main text

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