Publications:

Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels.

Genome Medicine

Kanavy, Dona M DM; McNulty, Shannon M SM; Jairath, Meera K MK; Brnich, Sarah E SE; Bizon, Chris C; Powell, Bradford C BC; Berg, Jonathan S JS

Publication Date: 2019-11-29

Variant appearance in text: PAH: 350C>T; Thr117Ile

PubMed Link: 31783775

Variant Present in the following documents:

• 13073_2019_683_MOESM2_ESM.xlsx, sheet 8

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Unique aspects of sequence variant interpretation for inborn errors of metabolism (IEM): The ClinGen IEM Working Group and the Phenylalanine Hydroxylase Gene.

Human Mutation

Zastrow, Diane B DB; Baudet, Heather H; Shen, Wei W; Thomas, Amanda A; Si, Yue Y; Weaver, Meredith A MA; Lager, Angela M AM; Liu, Jixia J; Mangels, Rachel R; Dwight, Selina S SS; Wright, Matt W MW; Dobrowolski, Steven F SF; Eilbeck, Karen K; Enns, Gregory M GM; Feigenbaum, Annette A; Lichter-Konecki, Uta U; Lyon, Elaine E; Pasquali, Marzia M; Watson, Michael M; Blau, Nenad N; Steiner, Robert D RD; Craigen, William J WJ; Mao, Rong R; ,

Publication Date: 2018-11

Variant appearance in text: PAH: 350C>T; Thr117Ile

PubMed Link: 30311390

Variant Present in the following documents:

• Main text

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