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: HEXA: L11P; rs141120074

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Dose of Isoniazid in Renal Disease for Treatment of Tuberculosis.

Annals Of Indian Academy Of Neurology

Sarma, G R K GRK

Publication Date: 2022

Variant appearance in text: HEXA: 32T>C; L11P

PubMed Link: 35936603

Variant Present in the following documents:

• AIAN-25-502b.pdf

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Ketoprofen-induced photoallergic dermatitis.

Pediatrics International : Official Journal Of The Japan Pediatric Society

Nihira, Takashi T; Hagiwara, Yusuke Y

Publication Date: 2019-06

Variant appearance in text: HEXA: 32T>C; L11P

PubMed Link: 31184407

Variant Present in the following documents:

• PED-61-610.pdf

View BVdb publication page