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: PKD1: G3144A

PubMed Link: 36413997

Variant Present in the following documents:

• mmc2.xlsx, sheet 1

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Demographic and clinical characteristics of children with autosomal dominant polycystic kidney disease: a single center experience

Turkish Journal Of Medical Sciences

Kasap Demir, Belde B; Mutlubaş, Fatma F; Soyaltın, Eren E; Alparslan, Caner C; Arya, Merve M; Alaygut, Demet D; Arslansoyu Çamlar, Seçil S; Berdeli, Afig A; Yavaşcan, Önder Ö

Publication Date: 2021-04-30

Variant appearance in text: PKD1: 9431G>C; Gly3144Ala

PubMed Link: 33315352

Variant Present in the following documents:

• Main text
• turkjmedsci-51-772.pdf

View BVdb publication page