ALKBH8 c.1679T>A ;(p.I560N)

Variant ID: 11-107375700-A-T

NM_138775.2(ALKBH8):c.1679T>A;(p.I560N)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Neurodevelopmental disorder in an Egyptian family with a biallelic ALKBH8 variant.

American Journal Of Medical Genetics. Part A
Saad, Ahmed K AK; Marafi, Dana D; Mitani, Tadahiro T; Du, Haowei H; Rafat, Karima K; Fatih, Jawid M JM; Jhangiani, Shalini N SN; Coban-Akdemir, Zeynep Z; , ; Gibbs, Richard A RA; Pehlivan, Davut D; Hunter, Jill V JV; Posey, Jennifer E JE; Zaki, Maha S MS; Lupski, James R JR
Publication Date: 2021-04

Variant appearance in text: ALKBH8: 1679T>A
PubMed Link: 33544954
Variant Present in the following documents:
  • Main text
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