Publications:

Heterozygous variants in GATA2 contribute to DCML deficiency in mice by disrupting tandem protein binding.

Communications Biology

Hasegawa, Atsushi A; Hayasaka, Yuki Y; Morita, Masanobu M; Takenaka, Yuta Y; Hosaka, Yuna Y; Hirano, Ikuo I; Yamamoto, Masayuki M; Shimizu, Ritsuko R

Publication Date: 2022-04-19

Variant appearance in text: PC: 1192C>T

PubMed Link: 35440757

Variant Present in the following documents:

• Main text
• 42003_2022_Article_3316.pdf

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Identification of novel mutations among Iranian NPC1 patients: a bioinformatics approach to predict pathogenic mutations.

Hereditas

Abtahi, Rezvan R; Karimzadeh, Parvaneh P; Aryani, Omid O; Akbarzadeh, Diba D; Salehpour, Shadab S; Rezayi, Alireza A; Tonekaboni, Seyed Hassan SH; Emameh, Reza Zolfaghari RZ; Houshmand, Massoud M

Publication Date: 2022-01-27

Variant appearance in text: PC: 1192C>T

PubMed Link: 35086560

Variant Present in the following documents:

• 41065_2022_Article_224.pdf

View BVdb publication page

Identification of novel mutations among Iranian NPC1 patients: a bioinformatics approach to predict pathogenic mutations.

Hereditas

Abtahi, Rezvan R; Karimzadeh, Parvaneh P; Aryani, Omid O; Akbarzadeh, Diba D; Salehpour, Shadab S; Rezayi, Alireza A; Tonekaboni, Seyed Hassan SH; Emameh, Reza Zolfaghari RZ; Houshmand, Massoud M

Publication Date: 2022-01-27

Variant appearance in text: PC: 1192C>T

PubMed Link: 35086560

Variant Present in the following documents:

• 41065_2022_Article_224.pdf

View BVdb publication page