FOXD4 c.909T>A ;(p.L303=)
Variant ID: 9-117211-A-T
NM_207305.4(FOXD4):c.909T>A;(p.L303=)
This variant was identified in 1 publication
Variant-Specific Resource Links:
Publications:
A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.
Human Genome Variation
Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-09-08
Variant appearance in text: FOXD4: L303L
Variant Present in the following documents:
- 41439_2022_208_MOESM3_ESM.xlsx, sheet 2