Publications:

Prevalence of Pathogenic and Potentially Pathogenic Inborn Error of Immunity Associated Variants in Children with Severe Sepsis.

Journal Of Clinical Immunology

Kernan, Kate F KF; Ghaloul-Gonzalez, Lina L; Vockley, Jerry J; Lamb, Janette J; Hollingshead, Deborah D; Chandran, Uma U; Sethi, Rahil R; Park, Hyun-Jung HJ; Berg, Robert A RA; Wessel, David D; Pollack, Murray M MM; Meert, Kathleen L KL; Hall, Mark W MW; Newth, Christopher J L CJL; Lin, John C JC; Doctor, Allan A; Shanley, Tom T; Cornell, Tim T; Harrison, Rick E RE; Zuppa, Athena F AF; Banks, Russel R; Reeder, Ron W RW; Holubkov, Richard R; Notterman, Daniel A DA; Dean, J Michael JM; Carcillo, Joseph A JA

Publication Date: 2022-02

Variant appearance in text: HR: 424C>T

PubMed Link: 34973142

Variant Present in the following documents:

• 10875_2021_Article_1183.pdf

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Novel compound heterozygous mutations of ALDH1A3 contribute to anophthalmia in a non-consanguineous Chinese family.

Genetics And Molecular Biology

Liu, Yunqiang Y; Lu, Yongjie Y; Liu, Shasha S; Liao, Shunyao S

Publication Date: 2017

Variant appearance in text: HR: 424C>T

PubMed Link: 28590501

Variant Present in the following documents:

• 1415-4757-gmb-1678-4685-GMB-2016-0120-Suppl03.pdf

View BVdb publication page