Publications:

Whole genome sequencing facilitates intragenic variant interpretation following modifier screening in C. elegans.

Bmc Genomics

Jean, Francesca F; Stasiuk, Susan S; Maroilley, Tatiana T; Diao, Catherine C; Galbraith, Andrew A; Tarailo-Graovac, Maja M

Publication Date: 2021-11-13

Variant appearance in text: F2: 947C>A

PubMed Link: 34773966

Variant Present in the following documents:

• 12864_2021_Article_8142.pdf

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Identification of six novel PTH1R mutations in families with a history of primary failure of tooth eruption.

Plos One

Risom, Lotte L; Christoffersen, Line L; Daugaard-Jensen, Jette J; Hove, Hanne Dahlgaard HD; Andersen, Henriette Skovgaard HS; Andresen, Brage Storstein BS; Kreiborg, Sven S; Duno, Morten M

Publication Date: 2013

Variant appearance in text: F2: 947C>A

PubMed Link: 24058597

Variant Present in the following documents:

• Main text

View BVdb publication page