Publications:

Fam20C in Human Diseases: Emerging Biological Functions and Therapeutic Implications.

Frontiers In Molecular Biosciences

Xu, Rongsheng R; Tan, Huidan H; Zhang, Jiahui J; Yuan, Zhaoxin Z; Xie, Qiang Q; Zhang, Lan L

Publication Date: 2021

Variant appearance in text: FAM20C: 1375C>G; Arg459Gly

PubMed Link: 34988120

Variant Present in the following documents:

• Main text

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Nonlethal Raine Syndrome in a Newborn Boy Caused by a Novel FAM20C Variant.

Molecular Syndromology

Eras, Nazan N; Celik, Yalcin Y

Publication Date: 2021-06

Variant appearance in text: FAM20C: Arg459Gly

PubMed Link: 34177433

Variant Present in the following documents:

• Main text

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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: FAM20C: R459G

PubMed Link: 33759783

Variant Present in the following documents:

• Main text
• main.pdf

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A Rare Cause of Hypophosphatemia: Raine Syndrome Changing Clinical Features with Age.

Calcified Tissue International

Eltan, Mehmet M; Alavanda, Ceren C; Yavas Abali, Zehra Z; Ergenekon, Pinar P; Yalındag Ozturk, Nilufer N; Sakar, Mustafa M; Dagcinar, Adnan A; Kirkgoz, Tarik T; Kaygusuz, Sare Betul SB; Gokdemir, Yasemin Y; Elcioglu, Huriye Nursel HN; Guran, Tulay T; Bereket, Abdullah A; Ata, Pinar P; Turan, Serap S

Publication Date: 2020-07

Variant appearance in text: FAM20C: 1375C>G

PubMed Link: 32337609

Variant Present in the following documents:

• 223_2020_Article_694.pdf

View BVdb publication page