MTMR2. myotubularin related protein 2. Clips. Gene Type： protein-coding. Organism： Homo sapiens. Chromosome： 11. NCBI GeneID： 8898. Location： 11q21. Also ...
Gene Cluster: MTMR2. Organism: Homo sapiens. Synonymous: CMT4B|CMT4B1|KIAA1073. myotubularin related protein 2. Link to Entrez Gene. Map: 11q22.
Score, Disease name, Description, Source, Pubmed, Links. <0.001, glaucoma, NA, BeFree, Detail. <0.001, Hereditary Motor and Sensory Neuropathies, NA, BeFree ...
Overlapped Transcript ; MTMR2 · ENST00000676272.1, chr11 ; MTMR2 · ENST00000676027.1, chr11 ; MTMR2 · ENST00000675196.1, chr11 ; MTMR2 · ENST00000676440.1, chr11 ...
MTMR2変異によるCharcot-Marie-Tooth病における遺伝子型-表現型相関と膜輸送における意味【JST・京大機械翻訳】. Publisher site Copy service · Access JDreamV for ...
ENST00000675438.1 MTMR2 · Information · Variants · Exon · CDS · Other genome · CDS sequence · Amino sequence.
Similar to GENE SYMBOL: MTMR2 (NM_201278.1 ). DESCRIPTION: myotubularin related protein 2. Link to Entrez Gene · GO:0004437 inositol or phosphatidylinositol ...
Nov 20, 2021 · Abstract: Charcot-Marie-Tooth disease (CMT) is a common hereditary peripheral polyneuropathy encompassing dis- tinct monogenetic disorders.
single nucleotide variant · single nucleotide variant ; NM_016156.6(MTMR2):c.832C>T (p.Gln278Ter) ; MTMR2 ...
Jun 19, 2021 · Abstract: Charcot-Marie-Tooth disease type 4H (CMT4H) is an autosomal recessive inherited demyelinating neuro- pathy caused by an FYVE, ...
