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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 2 (of 2 Records)

Query Trace: Muscle Weakness and NEB[original query]
New mutations found by Next-Generation Sequencing screening of Spanish patients with Nemaline Myopathy.
PloS one 2018 12 13 (12): e0207296.
Moreau-Le Lan Sarah, Aller Elena, Calabria Ines, Gonzalez-Tarancon Lola, Cardona-Gay Cristina, Martinez-Matilla Marina, Aparisi Maria J, Selles Jorge, Sagath Lydia, Pitarch Inmaculada, Muelas Nuria, Cervera Jose V, Millan Jose M, Pedrola La
Nemaline myopathy: reclassification of previously reported variants according to ACMG guidelines, and report of novel genetic variants.
European journal of human genetics : EJHG 2023 7 .
Alireza Haghighi, Zahra Alvandi, Yalda Nilipour, Amirreza Haghighi, Ruth Kornreich, Shahriar Nafissi, Robert J Desni
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