Identification of Pathogenic YY1AP1 Splice Variants in Siblings With Grange Syndrome by Whole Exome Sequencing

Matthias Rath; Stefanie Spiegler; Tim M. Strom; Johannes Trenkler; Peter Michael Kroisel; Ute Felbor

doi:10.1002/ajmg.a.60700

Identification of Pathogenic YY1AP1 Splice Variants in Siblings With Grange Syndrome by Whole Exome Sequencing

Matthias Rath, Stefanie Spiegler, Tim M. Strom, Johannes Trenkler, Peter Michael Kroisel, Ute Felbor

Faculty of Medicine

Research output: Contribution to journal › Article › peer-review

Original language	English
Pages (from-to)	295-299
Number of pages	5
Journal	American Journal of Medical Genetics - Part A
Volume	179
Issue number	2
DOIs	https://doi.org/10.1002/ajmg.a.60700
Publication status	Published - Feb 2019

Fields of science

301 Medical-Theoretical Sciences, Pharmacy
302 Clinical Medicine

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.1002/ajmg.a.60700

Cite this

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title = "Identification of Pathogenic YY1AP1 Splice Variants in Siblings With Grange Syndrome by Whole Exome Sequencing",

author = "Matthias Rath and Stefanie Spiegler and Strom, {Tim M.} and Johannes Trenkler and Kroisel, {Peter Michael} and Ute Felbor",

year = "2019",

month = feb,

doi = "10.1002/ajmg.a.60700",

language = "English",

volume = "179",

pages = "295--299",

journal = "American Journal of Medical Genetics - Part A",

issn = "1552-4833",

number = "2",

}

TY - JOUR

T1 - Identification of Pathogenic YY1AP1 Splice Variants in Siblings With Grange Syndrome by Whole Exome Sequencing

AU - Rath, Matthias

AU - Spiegler, Stefanie

AU - Strom, Tim M.

AU - Trenkler, Johannes

AU - Kroisel, Peter Michael

AU - Felbor, Ute

PY - 2019/2

Y1 - 2019/2

UR - https://www.ncbi.nlm.nih.gov/pubmed/30556293

U2 - 10.1002/ajmg.a.60700

DO - 10.1002/ajmg.a.60700

M3 - Article

SN - 1552-4833

VL - 179

SP - 295

EP - 299

JO - American Journal of Medical Genetics - Part A

JF - American Journal of Medical Genetics - Part A

IS - 2

ER -

Identification of Pathogenic YY1AP1 Splice Variants in Siblings With Grange Syndrome by Whole Exome Sequencing

Fields of science

UN SDGs

Access to Document

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Cite this