Case Report: Novel Splicing Variant in SH2D1A in a Patient With X-Linked Lymphoproliferative Syndrome Type 1

X-linked lymphoproliferative disease type 1 (XLP1), an X-linked recessive genetic disorder, is associated with primary immunodeficiency. Patients with XLP1 are susceptible to Epstein-Barr virus (EBV) infection. SH2D1A gene is known as the causative gene. We found a novel hemizygous variant of SH2D1A...

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Main Authors: Won Kyung Kwon (Author), Jee Ah Kim (Author), Jong-Ho Park (Author), Doo Ri Kim (Author), Su Eun Park (Author), Yae Jean Kim (Author), Keon Hee Yoo (Author), Ja-Hyun Jang (Author), Eun Suk Kang (Author)
Format: Book
Published: Frontiers Media S.A., 2022-03-01T00:00:00Z.
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3rd Floor Main Library

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Call Number: A1234.567
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