Detalhe da pesquisa
1.
Identification of a recurrent nonsense mutation in HR gene responsible for atrichia with papular lesions in two Kashmiri families.
J Gene Med
; 22(5): e3167, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32020700
2.
Identification of a Novel Homozygous Missense (c.443A>T:p.N148I) Mutation in BBS2 in a Kashmiri Family with Bardet-Biedl Syndrome.
Biomed Res Int
; 2021: 6626015, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33688495