SMN1 c.221C>T ;(p.P74L)

Variant ID: 5-70237283-C-T

NM_000344.3(SMN1):c.221C>T;(p.P74L)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Neurofilament Phosphorylation during Development and Disease: Which Came First, the Phosphorylation or the Accumulation?

Journal Of Amino Acids
Dale, Jeffrey M JM; Garcia, Michael L ML
Publication Date: 2012

Variant appearance in text: SMA: P74L
PubMed Link: 22570767
Variant Present in the following documents:
  • Main text
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