Publications:

Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports

Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-10-14

Variant appearance in text: MGAT4D: L210L

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM3_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM11_ESM.xlsx, sheet 2

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PI4K2A deficiency in an intellectual disability, epilepsy, myoclonus, akathisia syndrome.

Annals Of Clinical And Translational Neurology

Alkhater, Reem A RA; Scherer, Stephen W SW; Minassian, Berge A BA; Walker, Susan S

Publication Date: 2018-12

Variant appearance in text: MGAT4D: L210L

PubMed Link: 30564627

Variant Present in the following documents:

• ACN3-5-1617-s002.xlsx, sheet 1

View BVdb publication page