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Adapting the ACMG/AMP variant classification framework: A perspective from the ClinGen Hemoglobinopathy Variant Curation Expert Panel.
Kountouris P, Stephanou C, Lederer CW, Traeger-Synodinos J, Bento C, Harteveld CL, Fylaktou E, Koopmann TT, Halim-Fikri H, Michailidou K, Nfonsam LE, Waye JS, Zilfalil BA, Kleanthous M; ClinGen Hemoglobinopathy Variant Curation Expert Panel. Kountouris P, et al. Among authors: nfonsam le. Hum Mutat. 2022 Aug;43(8):1089-1096. doi: 10.1002/humu.24280. Epub 2021 Sep 24. Hum Mutat. 2022. PMID: 34510646 Free PMC article.
New point mutation in Golga3 causes multiple defects in spermatogenesis.
Bentson LF, Agbor VA, Agbor LN, Lopez AC, Nfonsam LE, Bornstein SS, Handel MA, Linder CC. Bentson LF, et al. Among authors: nfonsam le. Andrology. 2013 May;1(3):440-50. doi: 10.1111/j.2047-2927.2013.00070.x. Epub 2013 Mar 15. Andrology. 2013. PMID: 23495255 Free PMC article.
11 results