A Pitfall of Whole Exome Sequencing: Variants in the 5′UTR Splice Site of BTK Causing XLA

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A Pitfall of Whole Exome Sequencing: Variants in the 5′UTR Splice Site of BTK Causing XLA

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_2651907275

A Pitfall of Whole Exome Sequencing: Variants in the 5′UTR Splice Site of BTK Causing XLA

About this item

Full title

A Pitfall of Whole Exome Sequencing: Variants in the 5′UTR Splice Site of BTK Causing XLA

Author / Creator

Takada, Sanami , Pico-Knijnenburg, Ingrid , Pac, Malgorzata , Warris, Adilia and van der Burg, Mirjam

Publisher

New York: Springer US

Journal title

Journal of clinical immunology, 2022-04, Vol.42 (3), p.709-712

Language

English

Formats

Articles

Publication information

Publisher

New York: Springer US

Subjects

Subjects and topics

More information

Alternative Titles

Full title

A Pitfall of Whole Exome Sequencing: Variants in the 5′UTR Splice Site of BTK Causing XLA

Authors, Artists and Contributors

Author / Creator

Takada, Sanami
Pico-Knijnenburg, Ingrid
Pac, Malgorzata
Warris, Adilia
van der Burg, Mirjam

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_proquest_journals_2651907275

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_2651907275

Other Identifiers

ISSN

0271-9142

E-ISSN

1573-2592

DOI

10.1007/s10875-021-01198-x

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