Publications:

APPLICATION OF THE ACMG/AMP FRAMEWORK TO CAPTURE EVIDENCE RELEVANT TO PREDICTED AND OBSERVED IMPACT ON SPLICING: RECOMMENDATIONS FROM THE CLINGEN SVI SPLICING SUBGROUP.

Medrxiv : The Preprint Server For Health Sciences

Walker, Logan C LC; de la Hoya, Miguel M; Wiggins, George Ar GA; Lindy, Amanda A; Vincent, Lisa M LM; Parsons, Michael M; Canson, Daffodil M DM; Bis-Brewer, Dana D; Cass, Ashley A; Tchourbanov, Alexander A; Zimmermann, Heather H; Byrne, Alicia B AB; Pesaran, Tina T; Karam, Rachid R; Harrison, Steven M SM; , ; Spurdle, Amanda B AB

Publication Date: 2023-02-26

Variant appearance in text: PS1: P5=

PubMed Link: 36865205

Variant Present in the following documents:

• nihpp-2023.02.24.23286431v1.pdf

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DNA G-quadruplexes for native mass spectrometry in potassium: a database of validated structures in electrospray-compatible conditions.

Nucleic Acids Research

Ghosh, Anirban A; Largy, Eric E; Gabelica, Valérie V

Publication Date: 2021-02-26

Variant appearance in text: S182: P5=

PubMed Link: 33555347

Variant Present in the following documents:

• gkab039_supplemental_file.pdf

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Mutation screening of crystallin genes in Chinese families with congenital cataracts.

Molecular Vision

Zhuang, Jianfu J; Cao, Zongfu Z; Zhu, Yihua Y; Liu, Lijuan L; Tong, Yi Y; Chen, Xiaole X; Wang, Yaduan Y; Lu, Cailing C; Ma, Xu X; Yang, Juhua J

Publication Date: 2019

Variant appearance in text: PS1: P5=

PubMed Link: 31523120

Variant Present in the following documents:

• mv-v25-427.pdf

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