Associated Papers
The genetic landscape of inherited eye disorders in 74 consecutive families from the United Arab Emirates.
Méjécase C et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2020
Novel mutations in the 3-box motif of the BACK domain of KLHL7 associated with nonsyndromic autosomal dominant retinitis pigmentosa.
Oh JK et al.
Orphanet Journal of Rare Diseases, 2019
The molecular landscape of ETMR at diagnosis and relapse.
Lambo S et al.
Nature, 2019
31802000 (PubMed )
Supplement: NIHMS1541318-supplement-Supplementary_Table_5.xlsx › Somatic_SNVs_indels_recurrence
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