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Genome sequencing reveals a deep intronic splicing <i>ACVRL1</i> mutation hotspot in Hereditary Haemorrhagic Telangiectasia

Crossref DOI link: https://doi.org/10.1136/jmedgenet-2018-105561

Published Online: 2018-09-22

Published Print: 2018-12

Update policy: https://doi.org/10.1136/crossmarkpolicy

Authors

Wooderchak-Donahue, Whitney L. https://orcid.org/0000-0002-9358-7466
McDonald, Jamie

Farrell, Andrew

Akay, Gulsen

Velinder, Matt

Johnson, Peter

VanSant-Webb, Chad

Margraf, Rebecca

Briggs, Eric

Whitehead, Kevin J

Thomson, Jennifer

Lin, Angela E

Pyeritz, Reed E

Marth, Gabor

Bayrak-Toydemir, Pinar