TEK c.746G>C ;(p.R249T)

Variant ID: 9-27172731-G-C

NM_000459.3(TEK):c.746G>C;(p.R249T)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Two novel variants in CYP1B1 gene: a major contributor of autosomal recessive primary congenital glaucoma with allelic heterogeneity in Pakistani patients.

International Journal Of Ophthalmology
Waryah, Yar Muhammad YM; Iqbal, Muhammad M; Sheikh, Shakeel Ahmed SA; Baig, Muhammad Azhar MA; Narsani, Ashok Kumar AK; Atif, Muhammad M; Bhinder, Munir Ahmad MA; Ur Rahman, Attiq A; Memon, Azam Iqbal AI; Pirzado, Muhammad Suleman MS; Waryah, Ali Muhammad AM
Publication Date: 2019

Variant appearance in text: TEK: 746G>C
PubMed Link: 30662834
Variant Present in the following documents:
  • Main text
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