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Author Title [ Year(Desc)]
Filters: Author is Lessel, Davor and Keyword is Pyrroline Carboxylate Reductases  [Clear All Filters]
2018
Lessel, D. et al. Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann-Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations. Hum Genet 137, 921-939 (2018).