hypomorphic variant

Frequent hypomorphic alleles account for a significant fraction of ABCA4 disease and distinguish it from age-related macular degeneration
Jana Zernant, Winston Lee, Frederick T Collison, Gerald A Fishman, Yuri V Sergeev, Kaspar Schuerch, Janet R Sparrow, Stephen H Tsang, Rando Allikmets

Journal of Medical Genetics Jun 2017, 54 (6) 404-412; DOI: 10.1136/jmedgenet-2017-104540
Defect in phosphoinositide signalling through a homozygous variant in PLCB3 causes a new form of spondylometaphyseal dysplasia with corneal dystrophy
Salma Ben-Salem, Sarah M Robbins, Nara LM Sobreira, Angeline Lyon, Aisha M Al-Shamsi, Barira K Islam, Nadia A Akawi, Anne John, Pramathan Thachillath, Sania Al Hamed, David Valle, Bassam R Ali, Lihadh Al-Gazali

Journal of Medical Genetics Feb 2018, 55 (2) 122-130; DOI: 10.1136/jmedgenet-2017-104827

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hypomorphic variant