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: HR: P372S; rs776398559

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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CNGA3 mutations in hereditary cone photoreceptor disorders.

American Journal Of Human Genetics

Wissinger, B B; Gamer, D D; Jägle, H H; Giorda, R R; Marx, T T; Mayer, S S; Tippmann, S S; Broghammer, M M; Jurklies, B B; Rosenberg, T T; Jacobson, S G SG; Sener, E C EC; Tatlipinar, S S; Hoyng, C B CB; Castellan, C C; Bitoun, P P; Andreasson, S S; Rudolph, G G; Kellner, U U; Lorenz, B B; Wolff, G G; Verellen-Dumoulin, C C; Schwartz, M M; Cremers, F P FP; Apfelstedt-Sylla, E E; Zrenner, E E; Salati, R R; Sharpe, L T LT; Kohl, S S

Publication Date: 2001-10

Variant appearance in text: HR: P372S

PubMed Link: 11536077

Variant Present in the following documents:

• Main text

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