ALK c.2989A>G ;(p.M997V)

Variant ID: 2-29449866-T-C

NM_004304.4(ALK):c.2989A>G;(p.M997V)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


A patient with combined pituitary hormone deficiency and osteogenesis imperfecta associated with mutations in LHX4 and COL1A2.

Journal Of Advanced Research
Hemwong, Nalinee N; Phokaew, Chureerat C; Srichomthong, Chalurmpon C; Tongkobpetch, Siraprapa S; Srilanchakon, Khomsak K; Supornsilchai, Vichit V; Suphapeetiporn, Kanya K; Porntaveetus, Thantrira T; Shotelersuk, Vorasuk V
Publication Date: 2020-01

Variant appearance in text: ALK: M997V
PubMed Link: 32071780
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page