Open AccessAbstract 12: Whole exome sequencing of mother son duo identifies a novel variant p.E1415G in NF1 gene associated with neurofibromatosis
Author(s) -
Sridhar Sivasubbu,
Uma Nahar Saikia,
Sanjay Kumar Bhadada,
Anil Bhansali,
Reeta Singh,
Arunanshu Behra
Publication year - 2022
Publication title -
indian journal of endocrinology and metabolism
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.456
H-Index - 28
eISSN - 2230-9500
pISSN - 2230-8210
DOI - 10.4103/2230-8210.109676
Subject(s) - medicine , exome sequencing , neurofibromatosis , genetics , gene , exome , computational biology , bioinformatics , mutation , pathology , biology