Publications:

The ABCs of the atypical Fam20 secretory pathway kinases.

The Journal Of Biological Chemistry

Worby, Carolyn A CA; Mayfield, Joshua E JE; Pollak, Adam J AJ; Dixon, Jack E JE; Banerjee, Sourav S

Publication Date: 2021

Variant appearance in text: FAM20A: C330R

PubMed Link: 33759783

Variant Present in the following documents:

• Main text
• main.pdf

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A distinctive oral phenotype points to FAM20A mutations not identified by Sanger sequencing.

Molecular Genetics & Genomic Medicine

Poulter, James A JA; Smith, Claire E L CE; Murrillo, Gina G; Silva, Sandra S; Feather, Sally S; Howell, Marianella M; Crinnion, Laura L; Bonthron, David T DT; Carr, Ian M IM; Watson, Christopher M CM; Inglehearn, Chris F CF; Mighell, Alan J AJ

Publication Date: 2015-11

Variant appearance in text: FAM20A: C330R

PubMed Link: 26740946

Variant Present in the following documents:

• Main text
• MGG3-3-543.pdf

View BVdb publication page