Novel PHEX gene locus‐specific database: Comprehensive characterization of vast number of variants associated with X‐linked hypophosphatemia (XLH)-Reference-Cited by-同舟云学术

Novel PHEX gene locus‐specific database: Comprehensive characterization of vast number of variants associated with X‐linked hypophosphatemia (XLH)

Published:2021-12-05 Issue:2 Volume:43 Page:143-157
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Sarafrazi Soodabeh¹,Daugherty Sean C.¹,Miller Nicole¹,Boada Patrick¹,Carpenter Thomas O.²,Chunn Lauren³,Dill Kariena¹^ORCID,Econs Michael J.⁴,Eisenbeis Scott¹,Imel Erik A.⁴,Johnson Britt⁵,Kiel Mark J.³,Krolczyk Stan¹,Ramesan Prameela¹,Truty Rebecca⁶,Sabbagh Yves⁷

Affiliation:

1. Medical Affairs Ultragenyx Pharmaceutical, Inc. Novato California USA

2. Department of Pediatrics (Endocrinology) Yale University School of Medicine New Haven Connecticut USA

3. Data Science Genomenon Inc. Ann Arbor Michigan USA

4. Division of Endocrinology and Metabolism Indiana University School of Medicine Indianapolis Indiana USA

5. Medical Affairs Invitae Corporation San Francisco California USA

6. External Relations Invitae Corporation San Francisco California USA

7. Research and Development Inozyme Pharma Boston Massachusetts USA

Publisher

Wiley

Subject

Genetics (clinical),Genetics