Associated Papers
RTN4IP1-associated non-syndromic optic neuropathy and rod-cone dystrophy.
Gupta PR et al.
Ophthalmic Genetics, 2024
Deciphering the genetic architecture and ethnographic distribution of IRD in three ethnic populations by whole genome sequence analysis.
Biswas P et al.
Plos Genetics, 2021
Pathogenic variants in KPTN gene identified by clinical whole-genome sequencing.
Thiffault I et al.
Cold Spring Harbor Molecular Case Studies, 2020
32358097 (PubMed )
Supplement: supp_mcs.a003970_Supplemental_Table.xlsx › Variants_in_OMIM
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 › SAA3_Deleterious_Hits
Integrated analysis of germline and somatic variants in ovarian cancer.
Kanchi KL et al.
Nature Communications, 2014
24448499 (PubMed )
Supplement: NIHMS551112-supplement-19.xlsx › S_Data_18
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