Associated Papers
Novel homozygous mutations in Pakistani families with Charcot-Marie-Tooth disease.
Kanwal S et al.
Bmc Medical Genomics, 2021
iPSC modeling of severe aplastic anemia reveals impaired differentiation and telomere shortening in blood progenitors.
Melguizo-Sanchis D et al.
Cell Death & Disease, 2018
29374141 (PubMed )
Supplement: 41419_2017_141_MOESM8_ESM.xlsx › SAA1_Deleterious_Hits
Utilizing ExAC to assess the hidden contribution of variants of unknown significance to Sanfilippo Type B incidence.
Clark WT et al.
Plos One, 2018
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