Thirty-nine novel neurofibromatosis 1 (NF1) gene mutations identified in Slovak patients.
about
Fifty-four novel mutations in the NF1 gene and integrated analyses of the mutations that modulate splicingCharacterization and utilization of an international neurofibromatosis web-based, patient-entered registry: An observational study.The use of next-generation sequencing in molecular diagnosis of neurofibromatosis type 1: a validation study.126 novel mutations in Italian patients with neurofibromatosis type 1.A Novel Partial Duplication of ZEB2 and Review of ZEB2 Involvement in Mowat-Wilson Syndrome.Familial Lymphoproliferative Malignancies and Tandem Duplication of NF1 Gene.Clinical and molecular characterization of 112 single-center patients with Neurofibromatosis type 1.
P2860
Q33811241-97C4FBBB-A505-473A-BD4F-2C5F20248085Q33828856-716898F5-4C55-41D0-9D9F-CF0D6A2FB7B0Q34439859-4D90D87D-2678-456A-A508-ADE21CA13BD7Q36411302-D5E31FE0-D552-4308-97F5-510597029716Q39424387-F47DC70E-0C04-495A-B62C-E8F71FCEACBAQ41822861-05217419-5395-47C3-86F8-CF55D7FC3C90Q52606710-7783833D-E1D1-432D-843D-4C0E749AED58
P2860
Thirty-nine novel neurofibromatosis 1 (NF1) gene mutations identified in Slovak patients.
description
2013 nî lūn-bûn
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name
Thirty-nine novel neurofibromatosis 1 (NF1) gene mutations identified in Slovak patients.
@en
Thirty-nine novel neurofibromatosis 1
@nl
type
label
Thirty-nine novel neurofibromatosis 1 (NF1) gene mutations identified in Slovak patients.
@en
Thirty-nine novel neurofibromatosis 1
@nl
prefLabel
Thirty-nine novel neurofibromatosis 1 (NF1) gene mutations identified in Slovak patients.
@en
Thirty-nine novel neurofibromatosis 1
@nl
P2093
P2860
P356
P1476
Thirty-nine novel neurofibromatosis 1 (NF1) gene mutations identified in Slovak patients.
@en
P2093
Andrea Zatkova
Anna Bolcekova
Anna Hlavata
Darina Durovcikova
Denisa Ilencikova
Katarina Hlinkova
Laszlo Kovacs
Ludevit Kadasi
Martina Nemethova
P2860
P304
P356
10.1111/AHG.12026
P407
P577
2013-06-12T00:00:00Z