Publications:

Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics

Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,

Publication Date: 2022-12-01

Variant appearance in text: PROK2: M103I; rs1262195035

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Integrative analysis prioritised oxytocin-related biomarkers associated with the aetiology of autism spectrum disorder.

Ebiomedicine

Wang, Tao T; Zhao, Tingting T; Liu, Liqiu L; Teng, Huajing H; Fan, Tianda T; Li, Yi Y; Wang, Yan Y; Li, Jinchen J; Xia, Kun K; Sun, Zhongsheng Z

Publication Date: 2022-07

Variant appearance in text: PROK2: 309G>A; M103I

PubMed Link: 35665681

Variant Present in the following documents:

• mmc26.xlsx, sheet 1

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Next-generation sequencing of patients with congenital anosmia.

European Journal Of Human Genetics : Ejhg

Alkelai, Anna A; Olender, Tsviya T; Dode, Catherine C; Shushan, Sagit S; Tatarskyy, Pavel P; Furman-Haran, Edna E; Boyko, Valery V; Gross-Isseroff, Ruth R; Halvorsen, Matthew M; Greenbaum, Lior L; Milgrom, Roni R; Yamada, Kazuya K; Haneishi, Ayumi A; Blau, Ilan I; Lancet, Doron D

Publication Date: 2017-12

Variant appearance in text: PROK2: 309G>A; M103I

PubMed Link: 29255181

Variant Present in the following documents:

• Main text

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